Journal articles: 'Ashkenazi Jewish'

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Peretz, Hava, Avital Mulai, Sali Usher, Ariella Zivelin, Avihai Segal, Zahavi Weisman, Moshe Mittelman, et al. "The Two Common Mutations Causing Factor XI Deficiency in Jews Stem From Distinct Founders: One of Ancient Middle Eastern Origin and Another of More Recent European Origin." Blood 90, no. 7 (October 1, 1997): 2654–59. http://dx.doi.org/10.1182/blood.v90.7.2654.2654_2654_2659.

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Previous studies showed that factor XI (FXI) deficiency commonly observed in Ashkenazi Jews is caused by two similarly frequent mutations, type II (Glu117stop) and type III (Phe283Leu) with allele frequencies of 0.0217 and 0.0254, respectively. In Iraqi Jews, who represent the ancient gene pool of Jews, only the type II mutation was observed with an allele frequency of 0.0167. In this study we sought founder effects for each mutation by examination of four FXI gene polymorphisms enabling haplotype analysis in affected Jewish patients of Ashkenazi, Iraqi, and other origins and in Arab patients. Initial population surveys of 387 Middle Eastern Jews (excluding Iraqi Jews), 560 North African/Sephardic Jews, and 382 Arabs revealed allele frequencies for the type II mutation of 0.0026, 0.0027, and 0.0065, respectively. In contrast, the type III mutation was not detected in any of these populations. All 60 independent chromosomes bearing the type III mutation were solely observed in Ashkenazi Jewish patients and were characterized by a relatively rare haplotype. All 103 independent chromosomes bearing the type II mutation in patients of Ashkenazi, Iraqi, Yemenite, Syrian, and Moroccan Jewish origin and of Arab origin were characterized by another distinct haplotype that was rare among normal Ashkenazi Jewish, Iraqi Jewish, and Arab chromosomes. These findings constitute the first example of a mutation common to Ashkenazi Jews, non-Ashkenazi Jews, and Arabs and are consistent with the origin of type II mutation in a founder before the divergence of the major segments of Jews. Our findings also indicate that the type III mutation arose more recently in an Ashkenazi Jewish individual.

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Peretz, Hava, Avital Mulai, Sali Usher, Ariella Zivelin, Avihai Segal, Zahavi Weisman, Moshe Mittelman, et al. "The Two Common Mutations Causing Factor XI Deficiency in Jews Stem From Distinct Founders: One of Ancient Middle Eastern Origin and Another of More Recent European Origin." Blood 90, no. 7 (October 1, 1997): 2654–59. http://dx.doi.org/10.1182/blood.v90.7.2654.

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Abstract Previous studies showed that factor XI (FXI) deficiency commonly observed in Ashkenazi Jews is caused by two similarly frequent mutations, type II (Glu117stop) and type III (Phe283Leu) with allele frequencies of 0.0217 and 0.0254, respectively. In Iraqi Jews, who represent the ancient gene pool of Jews, only the type II mutation was observed with an allele frequency of 0.0167. In this study we sought founder effects for each mutation by examination of four FXI gene polymorphisms enabling haplotype analysis in affected Jewish patients of Ashkenazi, Iraqi, and other origins and in Arab patients. Initial population surveys of 387 Middle Eastern Jews (excluding Iraqi Jews), 560 North African/Sephardic Jews, and 382 Arabs revealed allele frequencies for the type II mutation of 0.0026, 0.0027, and 0.0065, respectively. In contrast, the type III mutation was not detected in any of these populations. All 60 independent chromosomes bearing the type III mutation were solely observed in Ashkenazi Jewish patients and were characterized by a relatively rare haplotype. All 103 independent chromosomes bearing the type II mutation in patients of Ashkenazi, Iraqi, Yemenite, Syrian, and Moroccan Jewish origin and of Arab origin were characterized by another distinct haplotype that was rare among normal Ashkenazi Jewish, Iraqi Jewish, and Arab chromosomes. These findings constitute the first example of a mutation common to Ashkenazi Jews, non-Ashkenazi Jews, and Arabs and are consistent with the origin of type II mutation in a founder before the divergence of the major segments of Jews. Our findings also indicate that the type III mutation arose more recently in an Ashkenazi Jewish individual.

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Shpilberg, O., H. Peretz, A. Zivelin, R. Yatuv, A. Chetrit, T. Kulka, C. Stern, E. Weiss, and U. Seligsohn. "One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews [see comments]." Blood 85, no. 2 (January 15, 1995): 429–32. http://dx.doi.org/10.1182/blood.v85.2.429.429.

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Abstract In recent years four mutations causing factor XI deficiency have been identified in Jews of Ashkenazi (European) origin. Two of them, type II (a nonsense mutation) and type III (a missense mutation), were found to prevail among 125 unrelated Ashkenazi Jews with severe factor XI deficiency. A finding of type II mutation in four unrelated Iraqi- Jewish families raised the possibility that this mutation is also common in Iraqi Jews, who represent the ancient gene pool of the Jews. A molecular-based analysis performed in 1,040 consecutively hospitalized patients disclosed the following results: Among 531 Ashkenazi-Jewish patients, the type II allele frequency was 0.0217 and among 509 Iraqi-Jewish patients, 0.0167 (P = .50). The type III allele frequency in the Ashkenazi-Jewish patients was 0.0254, whereas none of 502 Iraqi-Jewish patients examined had this mutation. These data suggest that the type II mutation was present in Jews already 2.5 millenia ago. The data also indicate that the estimated risk for severe factor XI deficiency in Ashkenazi Jews (due to either genotype) is 0.22% and in Iraqi Jews, 0.03%, and that the estimated risk of heterozygosity in Ashkenazi Jews is 9.0% and in Iraqi Jews, 3.3%. As patients with severe factor XI deficiency are prone to bleeding after injury and patients with partial deficiency may have similar bleeding complications when an additional hemostatic derangement is present, the observed high frequencies should be borne in mind when surgery is planned for individuals belonging to these populations.

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Shpilberg, O., H. Peretz, A. Zivelin, R. Yatuv, A. Chetrit, T. Kulka, C. Stern, E. Weiss, and U. Seligsohn. "One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews [see comments]." Blood 85, no. 2 (January 15, 1995): 429–32. http://dx.doi.org/10.1182/blood.v85.2.429.bloodjournal852429.

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In recent years four mutations causing factor XI deficiency have been identified in Jews of Ashkenazi (European) origin. Two of them, type II (a nonsense mutation) and type III (a missense mutation), were found to prevail among 125 unrelated Ashkenazi Jews with severe factor XI deficiency. A finding of type II mutation in four unrelated Iraqi- Jewish families raised the possibility that this mutation is also common in Iraqi Jews, who represent the ancient gene pool of the Jews. A molecular-based analysis performed in 1,040 consecutively hospitalized patients disclosed the following results: Among 531 Ashkenazi-Jewish patients, the type II allele frequency was 0.0217 and among 509 Iraqi-Jewish patients, 0.0167 (P = .50). The type III allele frequency in the Ashkenazi-Jewish patients was 0.0254, whereas none of 502 Iraqi-Jewish patients examined had this mutation. These data suggest that the type II mutation was present in Jews already 2.5 millenia ago. The data also indicate that the estimated risk for severe factor XI deficiency in Ashkenazi Jews (due to either genotype) is 0.22% and in Iraqi Jews, 0.03%, and that the estimated risk of heterozygosity in Ashkenazi Jews is 9.0% and in Iraqi Jews, 3.3%. As patients with severe factor XI deficiency are prone to bleeding after injury and patients with partial deficiency may have similar bleeding complications when an additional hemostatic derangement is present, the observed high frequencies should be borne in mind when surgery is planned for individuals belonging to these populations.

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Yunis, JJ, D. Corzo, M. Salazar, JA Lieberman, A. Howard, and EJ Yunis. "HLA associations in clozapine-induced agranulocytosis." Blood 86, no. 3 (August 1, 1995): 1177–83. http://dx.doi.org/10.1182/blood.v86.3.1177.1177.

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Abstract We previously reported preliminary results of association of clozapine- induced agranulocytosis (CA) with HLA-B38, DR4, DQ3 in five Ashkenazi Jewish patients and with HLA-DR2, DQ1 in four non-Jewish patients. In the present study, 31 additional patients with CA, 10 Ashkenazi Jewish, and 21 of non-Jewish ancestry, were studied. HLA alleles and haplotypes were compared among 52 patients (33 Ashkenazi Jewish, 19 non-Jewish) matched for ethnic background and clinical status. Our results show two associations and define the HLA allele markers for the Ashkenazi Jewish and non-Jewish haplotypes associated with CA. The most important markers for susceptibility for CA in Ashkenazi Jewish patients were DRB1*0402, DQB1*0302, and DQA1*0301, and in non-Jewish patients, HLA- DR*02, DQB1*0502, and DQA1*0102. HLA-DRB1*011 and DQB1*0301 were underrepresented in Ashkenazi Jewish patients when compared with controls. We hypothesize that genes of the major histocompatability complex, other than class I and class II, are responsible for CA; among them are the variants of the heat-shock proteins 70 or the tumor necrosis factor loci.

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Yunis, JJ, D. Corzo, M. Salazar, JA Lieberman, A. Howard, and EJ Yunis. "HLA associations in clozapine-induced agranulocytosis." Blood 86, no. 3 (August 1, 1995): 1177–83. http://dx.doi.org/10.1182/blood.v86.3.1177.bloodjournal8631177.

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We previously reported preliminary results of association of clozapine- induced agranulocytosis (CA) with HLA-B38, DR4, DQ3 in five Ashkenazi Jewish patients and with HLA-DR2, DQ1 in four non-Jewish patients. In the present study, 31 additional patients with CA, 10 Ashkenazi Jewish, and 21 of non-Jewish ancestry, were studied. HLA alleles and haplotypes were compared among 52 patients (33 Ashkenazi Jewish, 19 non-Jewish) matched for ethnic background and clinical status. Our results show two associations and define the HLA allele markers for the Ashkenazi Jewish and non-Jewish haplotypes associated with CA. The most important markers for susceptibility for CA in Ashkenazi Jewish patients were DRB1*0402, DQB1*0302, and DQA1*0301, and in non-Jewish patients, HLA- DR*02, DQB1*0502, and DQA1*0102. HLA-DRB1*011 and DQB1*0301 were underrepresented in Ashkenazi Jewish patients when compared with controls. We hypothesize that genes of the major histocompatability complex, other than class I and class II, are responsible for CA; among them are the variants of the heat-shock proteins 70 or the tumor necrosis factor loci.

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7

Zhou, Yitian, and Volker M. Lauschke. "Comprehensive overview of the pharmacogenetic diversity in Ashkenazi Jews." Journal of Medical Genetics 55, no. 9 (July 3, 2018): 617–27. http://dx.doi.org/10.1136/jmedgenet-2018-105429.

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BackgroundAdverse drug reactions are a major concern in drug development and clinical therapy. Genetic polymorphisms in genes involved in drug metabolism and transport are major determinants of treatment efficacy and adverse reactions, and constitute important biomarkers for drug dosing, efficacy and safety. Importantly, human populations and subgroups differ substantially in their pharmacogenetic variability profiles, with important consequences for personalised medicine strategies and precision public health approaches. Despite their long migration history, Ashkenazi Jews constitute a rather isolated population with a unique genetic signature that is distinctly different from other populations.ObjectiveTo provide a comprehensive overview of the pharmacogenetic profile in Ashkenazim.MethodsWe analysed next-generation sequencing data from 5076 Ashkenazim individuals and used sequence data from 117 425 non-Jewish individuals as reference.ResultsWe derived frequencies of 164 alleles in 17 clinically relevant pharmacogenes and derived profiles of putative functional consequences, providing the most comprehensive data set of Jewish pharmacogenetic diversity published to date. Furthermore, we detected 127 variants with an aggregated frequency of 20.7% that were specifically found in Ashkenazim, of which 55 variants were putatively deleterious (aggregated frequency of 9.4%).ConclusionThe revealed pattern of pharmacogenetic variability in Ashkenazi Jews is distinctly different from other populations and is expected to translate into unique functional consequences, especially for the metabolism of CYP2A6, CYP2C9, NAT2 and VKORC1 substrates. We anticipate that the presented data will serve as a powerful resource for the guidance of pharmacogenetic treatment decisions and the optimisation of population-specific genotyping strategies in the Ashkenazi diaspora.

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Fridjesi, Judit. "The ′ugliness′ of Jewish prayer: Voice quality as the expression of identity." Muzikologija, no. 7 (2007): 99–118. http://dx.doi.org/10.2298/muz0707099f.

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This article is based on the musical material and interviews the author collected in Hungary, France, Czechoslovakia, the USA and Israel in the course of thirty years of her fieldwork among the traditional East-Ashkenazi Jews. It relates to the aesthetic concepts of the prayer chant of the Ashkenazi Jews of East Europe (?East -Ashkenazim?) as it appears to have existed before World War II, survived in the oral tradition until the 1970s and exists sporadically up to the present.

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Buchbinder, Jacob T., Yoram Bilu, and Eliezer Witztum. "Ethnic Background and Antecedents of Religious Conversion among Israeli Jewish Outpatients." Psychological Reports 81, no. 3_suppl (December 1997): 1187–202. http://dx.doi.org/10.2466/pr0.1997.81.3f.1187.

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This study explored the association of ethnocultural background (Ashkenazi vs Sephardi origin) with antecedents of religious conversion among Israeli Jewish penitents who applied for psychiatric help in an outpatient clinic. A basic assumption underlying the comparison was that Sephardic Jews in Israel are more inclined toward Jewish tradition and collectivistic than Ashkenazim. The interview data indicated that for both groups emotional factors were more dominant in the conversion process than cognitive ones; however, cognitive factors were more strongly present in the conversion process of the Ashkenazim whose prepenitence cultural orientation had been more secularized and individualistic. In both groups a high prevalence of problematic relations with the father (but not with the mother) during childhood was noticed. Over-all, conversion tended to be gradual rather than abrupt and devoid of mystical experiences.

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Charrow, Joel. "Ashkenazi Jewish genetic disorders." Familial Cancer 3, no. 3-4 (2004): 201–6. http://dx.doi.org/10.1007/s10689-004-9545-z.

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Klein, Michele. "The Candle of Distinction: A Cultural Biography of the Havdalah Light." Images 8, no. 1 (December 4, 2014): 3–24. http://dx.doi.org/10.1163/18718000-12340036.

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This case study explores how a general lighting device transformed into a distinctive Jewish ritual object, the Havdalah candle. In late antiquity, the ubiquitous oil lamp served for the fire-light blessing during the end-of-Sabbath Havdalah ritual but in the fourth century, a sage added a torch, avukah, aggrandizing the ceremonial light. Jews showed little concern for the lighting utensil until the late Middle Ages, when a variety of contemporary torch-candles employed in Church ritual and among Christian aristocracy inspired new rabbinic interpretations of the term avukah. Ashkenazi Jews favored a costly Gothic-style implement with intertwined tapers, which particularly suited the words of the ancient Havdalah blessing. This became a distinctively Ashkenazi Jewish ritual object in the sixteenth century, after Christians abandoned the old-fashioned style of torch-candle. Following the drop in cost of wax, and massive Jewish migrations in modern times, all observant Jews adopted the Ashkenazi intertwined candle.

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Verlander, PC, A. Kaporis, Q. Liu, Q. Zhang, U. Seligsohn, and AD Auerbach. "Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population." Blood 86, no. 11 (December 1, 1995): 4034–38. http://dx.doi.org/10.1182/blood.v86.11.4034.bloodjournal86114034.

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Fanconi anemia (FA) is a genetically and phenotypically heterogeneous autosomal recessive disorder defined by a cellular hypersensitivity to DNA cross-linking agents. One of the FA genes, FAC, has been cloned and the genomic structure of the coding region has been characterized. We have developed amplification refractory mutation system (ARMS) assays for five known mutations in FAC, and have applied these assays to determine the carrier frequency of the IVS4 + 4 A-->T (IVS4) mutation in an Ashkenazi Jewish population. We tested 3,104 Jewish individuals, primarily of Ashkenazi descent, for the two most common FAC mutations, IVS4 and 322delG. Thirty-five IVS4 carriers were identified, for a carrier frequency of 1 in 89 (1.1%; 95% confidence interval 0.79% to 1.56%); no 322delG carriers were found. To determine if the IVS4 mutation was confined to the Ashkenazi Jewish population, we tested 563 Iraqi Jews for IVS4, and no carriers were found. Because the IVS4 mutation has only been found on chromosomes of Ashkenazi Jewish origin and is the only FAC mutation found on these chromosomes, we suggest that a founder effect is responsible for the high frequency of this mutation. With a carrier frequency greater than 1% and simple testing available, the IVS4 mutation merits inclusion in the battery of tests routinely provided to the Jewish population.

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Hsia, R. Po-chia. "Elisheva Carlebach. Divided Souls: Converts from Judaism in Germany, 1500–1750. New Haven: Yale University Press, 2001. xii, 324 pp." AJS Review 29, no. 2 (November 2005): 388–89. http://dx.doi.org/10.1017/s0364009405350173.

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Unlike the Sephardim, who accepted the concept of taqiyya and the practice of marranism to cope with forced conversions under Islam, the Ashkenazim, especially the Jewish communities of Germanophone Central Europe, developed an uncompromising rejection of Christian baptism. Instead of marranism and deception under Islam, the Ashkenazim, in the persecutions of the Crusades and after, developed a strong sense of martyrdom and detested baptism, whether forced or voluntary, as ritual and spiritual defilement and pollution. The small number of Jewish converts to Christianity were not so much sinners but apostates (meshummadim or the vertilgten). Given this Ashkenazi tradition, it is not surprising that converts were marginalized in Jewish historiography and scholarship. Nevertheless, as Carlebach argues persuasively in this book, they played a significant role in Jewish–Christian relations in early modern Germany; and given the fact that conversions rose rapidly in the late eighteenth century, it is all the more important to understand the prehistory of Jewish conversion and integration in Germany after Emancipation.

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Nazaraliyeva, Aygun. "Ashkenazi jews in Azerbaijan: on some problems of ethnic identity in a foreign ethnic environment." Grani 23, no. 4 (July 5, 2020): 66–74. http://dx.doi.org/10.15421/172042.

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The article established that the formation and becoming of the ethnic identity of the ashkenazi jews of Azerbaijan is influenced by a number of traditional factors, in particular, family, upbringing and cultural traditions. In particular, the special role of traditions in the formation of ethnic identity among jews is associated with the essential role of judaism in this process. The article also notes that one of the most important elements of ethnic culture and the sustainability of ethnic identity is the mother tongue. The mother tongue of ashkenazi jews is yiddish. It is established that at present the functional significance of yiddish has significantly decreased. The almost complete oblivion of yiddish and the transition of the vast majority of ashkenazi jews of Azerbaijan to the russian language created favorable conditions for the transition of this community to hebrew. In addition to the desire to revive historical memory, the revival of traditional culture and religion, the strengthening of the dominant position of hebrew among ashkenazi jews was also associated with an increase in migration sentiments, the desire of many of them to leave for their historical homeland in Israel. The desire to study hebrew, characteristic of many ashkenazi in Azerbaijan, especially middle and young age, does not mean that this language has become functionally significant for intra-community and everyday communication. For these purposes, the russian language continues to be widely used. For example, while an older generation of ashkenazi jews owned yiddish, the middle generation speaks mainly russian, and the relatively young generation already speaks three languages – azerbaijani, russian and hebrew. In the article, summing up some results of the study of ethnic identity among ashkenazi jews of Azerbaijan, it is stated that, despite the unspoken, and sometimes vowed anti-semitism of the rulers of tsarist Russia and the Soviet Union, ashkenazi jews of Azerbaijan have largely preserved their ethnic identity, traditional holidays and rituals. Moreover, the activity of various jewish schools in Azerbaijan, the education of jewish children in hebrew determines the stability of ethnic identity among various age groups of the jewish population. The stability of the ethnic identity of ashkenazi jews in Azerbaijan is also influenced by such traditional factors as family, upbringing and cultural traditions. It is likely that this is due to the fact that for most jews, following the customs and traditions in everyday life is an important element of the national mentality. Moreover, judaism plays a major role in maintaining ethnic identity among ashkenazi jews.

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LIDAR, MERAV, RON KEDEM, YAACOV BERKUN, PNINA LANGEVITZ, and AVI LIVNEH. "Familial Mediterranean Fever in Ashkenazi Jews: The Mild End of the Clinical Spectrum." Journal of Rheumatology 37, no. 2 (December 15, 2009): 422–25. http://dx.doi.org/10.3899/jrheum.090401.

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Objective. To characterize familial Mediterranean fever (FMF) in Ashkenazi patients, a Jewish subgroup in which FMF has rarely been described before.Methods. A retrospective analysis, comparing demographic, clinical, and genetic measures of the cohort of Ashkenazi Jewish patients with FMF (n = 57), followed at the National Center for FMF in Israel, to age and sex matched patients of Iraqi Jewish (n = 62) and North African Jewish (NAJ; n = 61) origin.Results. Age at disease onset and diagnosis was earlier in NAJ than among Ashkenazi and Iraqi patients. Family history of FMF was described by only 30% of Ashkenazi patients as opposed to the majority of Iraqi and NAJ patients (p = 0.001). The frequency of abdominal and febrile attacks was similar among the 3 groups, while chest and joint attacks were far less common in Ashkenazi and Iraqi compared to NAJ patients. A good response to colchicine was noted in a similar proportion of Ashkenazi and Iraqi patients (82–84%) as opposed to only 56% of NAJ patients (p = 0.0001). Proteinuria, renal failure, and amyloidosis were most frequent among the NAJ patients (18, 6.6, and 9.8% compared to 5.3, 0, and 3.5% and 1.6, 0, and 0% in Ashkenazi and Iraqi patients, respectively).Conclusion. Ashkenazi patients with FMF stand at the mildest end of the clinical spectrum of FMF. This is notwithstanding the tendency for amyloidosis, the frequency of which is not trivial and which deserves particular awareness.

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Cioffi, Antonio, Ottavio De Cobelli, Paolo Veronesi, Carlo La Vecchia, Patrick Maisonneuve, and Giovanni Corso. "Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis." Cancers 15, no. 1 (January 2, 2023): 306. http://dx.doi.org/10.3390/cancers15010306.

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Background and aims: International guidelines recommend testing BRCA2 in men with prostate cancer, due to the presence of a strong association with this gene. Some ethnicities present disparities in genetic distribution for the relation with specific founder variants. Ashkenazi Jewish people are, importantly, at high risk of breast cancer for their inherited cluster with germline BRCA1/2 variants. However, in Ashkenazi men with prostate cancer, the prevalence of BRCA1 and/or BRCA2 is not well defined. We assessed the frequency of these variants in Ashkenazi vs. non-Ashkenazi men with prostate cancer. Materials and Methods: In accord with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement, we revised all germline BRCA variants reported in MEDLINE from 1996 to 2021 in Ashkenazi and non-Ashkenazi men with prostate cancer. Results: Thirty-five original studies were selected for the analysis. Among populations from Israel and North America, Ashkenazi Jewish men presented higher prevalence of BRCA1 variants [0.9% (0.4–1.5) vs. 0.5% (0.2–1.1), p = 0.09] and a lower prevalence of BRCA2 variants [1.5% (1.1–2.0) vs. 3.5% (1.7–5.9), p = 0.08] in comparison to the non-Ashkenazi population. Conclusions: Since germline BRCA1 variants are more prevalent and BRCA2 variants are less prevalent in PCa patients of Ashkenazi Jewish ethnicity in comparison to non-Ashkenazi patients, prostate cancer genetic screening in Ashkenazi men should not be restricted to the BRCA2 gene.

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Shilony, Zvi. "Ashkenazi Jewish Almshouses in Jerusalem." Journal of Cultural Geography 14, no. 1 (September 1993): 35–48. http://dx.doi.org/10.1080/08873639309478379.

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Levran, O., RJ Desnick, and EH Schuchman. "Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients." Blood 80, no. 8 (October 15, 1992): 2081–87. http://dx.doi.org/10.1182/blood.v80.8.2081.bloodjournal8082081.

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Types A and B Niemann-Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM; E.C. 3.1.4.12) and the resultant lysosomal accumulation of sphingomyelin. Type A disease is a fatal, neurodegenerative disorder of infancy, whereas type B disease has no neurologic manifestations and is characterized primarily by reticuloendothelial involvement and survival into adulthood. Both disorders occur more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. Recently, a missense mutation in the ASM gene (designated R496L) was detected in more than 30% of the ASM alleles from Ashkenazi Jewish type A NPD patients. We report a second, common mutation that resulted from a T to C transition at nucleotide 905 and predicted a leucine to proline substitution at ASM codon 302 (designated L302P). Notably, the L302P mutation occurred in 23.5% (8 of 34) of the Ashkenazi Jewish type A NPD alleles studied. In contrast, it was not found in any of the ASM alleles from non-Jewish type A patients, in 36 alleles from type B patients, or in 100 ASM alleles from normal Ashkenazi Jewish individuals. To confirm the authenticities of the L302P and R496L mutations, each nucleotide change was separately introduced into the full-length ASM cDNA by site- directed mutagenesis and transiently expressed in COS-1 cells. Neither mutation expressed ASM catalytic activity, consistent with the type A phenotype of homoallelic patients. The identification of the L302P mutation should further facilitate molecular carrier detection for NPD in the Ashkenazi Jewish population, particularly because the L302P mutation can be easily detected using the restriction enzyme, AlwNl.

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Levran, O., RJ Desnick, and EH Schuchman. "Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients." Blood 80, no. 8 (October 15, 1992): 2081–87. http://dx.doi.org/10.1182/blood.v80.8.2081.2081.

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Abstract Types A and B Niemann-Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM; E.C. 3.1.4.12) and the resultant lysosomal accumulation of sphingomyelin. Type A disease is a fatal, neurodegenerative disorder of infancy, whereas type B disease has no neurologic manifestations and is characterized primarily by reticuloendothelial involvement and survival into adulthood. Both disorders occur more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. Recently, a missense mutation in the ASM gene (designated R496L) was detected in more than 30% of the ASM alleles from Ashkenazi Jewish type A NPD patients. We report a second, common mutation that resulted from a T to C transition at nucleotide 905 and predicted a leucine to proline substitution at ASM codon 302 (designated L302P). Notably, the L302P mutation occurred in 23.5% (8 of 34) of the Ashkenazi Jewish type A NPD alleles studied. In contrast, it was not found in any of the ASM alleles from non-Jewish type A patients, in 36 alleles from type B patients, or in 100 ASM alleles from normal Ashkenazi Jewish individuals. To confirm the authenticities of the L302P and R496L mutations, each nucleotide change was separately introduced into the full-length ASM cDNA by site- directed mutagenesis and transiently expressed in COS-1 cells. Neither mutation expressed ASM catalytic activity, consistent with the type A phenotype of homoallelic patients. The identification of the L302P mutation should further facilitate molecular carrier detection for NPD in the Ashkenazi Jewish population, particularly because the L302P mutation can be easily detected using the restriction enzyme, AlwNl.

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Rozenberg, Roberto, and Lygia da Veiga Pereira. "The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program." Sao Paulo Medical Journal 119, no. 4 (July 2001): 146–49. http://dx.doi.org/10.1590/s1516-31802001000400007.

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CONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population. OBJECTIVE: To evaluate the importance of a Tay-Sachs disease carrier screening program in the Brazilian Jewish population by determining the frequency of heterozygotes and the acceptance of the program by the community. SETTING: Laboratory of Molecular Genetics - Institute of Biosciences - Universidade de São Paulo. PARTICIPANTS: 581 senior students from selected Jewish high schools. PROCEDURE: Molecular analysis of Tay-Sachs disease causing mutations by PCR amplification of genomic DNA, followed by restriction enzyme digestion. RESULTS: Among 581 students that attended educational classes, 404 (70%) elected to be tested for Tay-Sachs disease mutations. Of these, approximately 65% were of Ashkenazi Jewish origin. Eight carriers were detected corresponding to a carrier frequency of 1 in every 33 individuals in the Ashkenazi Jewish fraction of the sample. CONCLUSION: The frequency of Tay-Sachs disease carriers among the Ashkenazi Jewish population of Brazil is similar to that of other countries where carrier screening programs have led to a significant decrease in disease incidence. Therefore, it is justifiable to implement a Tay-Sachs disease carrier screening program for the Brazilian Jewish population.

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Fisher, Benjamin. "From Boxes and Cabinets to the Bibliotheca: Building the Jewish Library of the Ex-Conversos in Amsterdam, 1620–1665." European Journal of Jewish Studies 13, no. 1 (February 1, 2019): 43–76. http://dx.doi.org/10.1163/1872471x-11321063.

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Abstract In the early seventeenth century, members of Amsterdam’s Portuguese Jewish community assembled a significant collection of Jewish—and especially Sephardi—literature that served as a crucial resource for scholars, religious leaders, and students. This article explores Jewish and Christian models that may have shaped the project of book collecting; it traces the changing perception of book collecting in the community; and it identifies shifts in the cultural profile of the texts being collected. The arrival of Ashkenazi immigrants fleeing war in eastern Europe spurred the collection of new texts, and the blending of Ashkenazi and Sephardi Jewish cultures.

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Roos, Lena. "Cross-dressing among medieval Ashkenazi Jews." Nordisk Judaistik/Scandinavian Jewish Studies 28, no. 2 (December 2, 2017): 4–22. http://dx.doi.org/10.30752/nj.67749.

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This article deals with explicit permissions for two types of cross-dressing found in the thirteenth-century ethical tract Sefer Chasidim. In order to avoid being sexually assaulted, female Jewish travellers were allowed to disguise themselves as a. Christians, even as nuns, or b. men. This contradicts biblical and rabbinical prohibitions against such practices. These textual passages are discussed, set against the Jewish and Christian medieval discourse on dress and identity, and they are also related to other contemporary source texts that show that the borders between men and women, and Jews and Christians, as distinct and separate groups were at this time being contested. The author concludes that these permissions should not be seen as ways of transcending the boundaries of the group, but rather as part of a discourse that served to strengthen such boundaries.

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Begleiter, Michael L., Janda L. Buchholz, Andrea M. Atherton, Lee Z. Mays, Molly M. Lund, and Meghan E. Strenk. "Ashkenazi Jewish genetic disease carrier screening." Genetics in Medicine 10, no. 6 (June 2008): 461. http://dx.doi.org/10.1097/gim.0b013e318170f87e.

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Gross, Susan J., Beth A. Pletcher, and Kristin G. Monaghan. "Ashkenazi Jewish genetic disease carrier screening." Genetics in Medicine 10, no. 6 (June 2008): 461–62. http://dx.doi.org/10.1097/gim.0b013e31817102e1.

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Schrader, Kasmintan A., Kelly Lynn Stratton, Rajmohan Murali, Yael Laitman, Luca Cavallone, Lily Offit, Yong Hannah Wen, et al. "Genome sequencing of multiple primary tumors to reveal underlying germline cancer susceptibility." Journal of Clinical Oncology 31, no. 15_suppl (May 20, 2013): 1552. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.1552.

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1552 Background: Apart from germline mutations in BRCA1 and BRCA2, the basis for genetic susceptibility to breast and ovarian cancer is heterogeneous, and can necessitate sequential or multiplex genetic testing. In addition, examination of germline DNA alone may not be conclusive. Information regarding both primary and secondary genetic events can be obtained from genomic analysis of tumors in conjunction with germline DNA. Methods: To determine the underlying cause of multiple primary malignancies in an Ashkenazi Jewish individual, whole genome sequencing was performed on DNA from the patient’s germline, invasive ductal carcinoma of the breast, and ovarian high-grade serous carcinoma. After identifying a structural variant of interest in this patient, germline DNA of 1846 Ashkenazi Jewish individuals who had a personal history of either breast, pancreatic, or ovarian cancer or a history of both breast and/or ovarian cancer and a similar family history, were screened using a TaqMan copy number assay or a specific PCR breakpoint assay to determine if this structural variant is a founder mutation. Results: A novel germline complex structural variant of PALB2 creating a 3790 base-pair deletion encompassing exon 11 associated with a 68 base-pair insertion was identified and confirmed by Sanger sequencing and a TaqMan copy number assay. The germline deletion was retained in both tumors. In addition, both tumors acquired second hits that led to inactivation of the wild-type allele of PALB2. The germline PALB2 structural variant was not identified in any of the additional 1846 Ashkenazi Jewish individuals genotyped. Conclusions: Whole genome sequencing of multiple primary tumors enabled identification and characterization of a novel germline structural variant in PALB2 as the basis for the individual’s susceptibility to breast and ovarian cancer. The variant does not appear to be a founder mutation in Ashkenazim.

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Halperin, Liora R. "TRADING SECRETS: CONSTRUCTIONS AND CONTEXTS OF TWO MIDDLE EASTERN JEWISH GUARDS IN THE EARLY PETAH TIKVA AGRICULTURAL COLONY." International Journal of Middle East Studies 51, no. 1 (January 14, 2019): 65–86. http://dx.doi.org/10.1017/s0020743818001162.

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AbstractTwo Arabic-speaking Jewish guards worked in the European Jewish agricultural colony of Petah Tikva soon after its founding, northeast of Jaffa, in 1878: Daud abu Yusuf from Baghdad and Yaʿqub bin Maymun Zirmati, a Maghribi Jew from Jaffa. The two men, who worked as traders among Bedouin but were recruited for a short time by the colony, offer a rare glimpse of contacts between Ashkenazi and Middle Eastern Jews in rural Jewish colonies established in the last quarter of the 19th century, colonies that are often regarded as detached from their local and Ottoman landscape. The article first argues that Zionist sources constructed these two men as bridges to the East in their roles as teachers of Arabic and perceived sources of legitimization for the European Jewish settlement project. It then reads beyond the sparse details offered in Ashkenazi Zionist sources to resituate these men in their broad imperial and regional context and argue that, contrary to the local Zionist accounts, the colony was in fact likely to have been marginal to these men's commercial and personal lives.

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Malin, James Edward. "Give Us Seltzer, That We May Drink." Gastronomica 22, no. 4 (2022): 37–48. http://dx.doi.org/10.1525/gfc.2022.22.4.37.

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From Hippocrates to Hannibal to the Perrier bottle on a French bistro’s table, drinking seltzer may be as widespread in Western culinary history as eating bread. However, seltzer has had different meanings for various cultures and eras. Today’s New York Ashkenazi Jews, for example, see seltzer as a food icon—a comestible metaphor for their own assimilation and success. (After all, seltzer is the “Jewish Champagne.”) Unlike most Jewish food icons, however, which have some connection to the old world, seltzer seems to have become Jewish suddenly in New York around the 1880s. This article explores thirst as a motivating factor for seltzer’s adoption into Ashkenazi heritage. In the absence of anything provably Judaic about the beverage, this article hypothesizes that seltzer was accessioned into the Jewish gastronomic pantheon by circumstance. New York’s abundant, aqueduct-fed water supply, although completed in the 1840s, was not often tapped by immigrant inhabitants of tenement buildings. Instead, for decades tenement dwellers were forced to make do with the city’s scarce, polluted, or simply undrinkable natural resources. Meanwhile, the city’s popular seltzer industry had begun to adjust, plying seltzer toward poorer masses. Around the time of the Jews’ diaspora, seltzer became the cheapest it had ever been. With seltzer now attainable for poor immigrants, the industry became an ad hoc water infrastructure, ascending into ubiquity among Jewish New Yorkers. Once Jews assimilated into the dominant American culture, seltzer, no longer needed for hydration, became an icon for the Jewish dichotomy of remembering historical strife whilst celebrating abundance.

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Salivon, Elisha. "What Does Jewish Praying Book from the World War Tell: after the Publication by Rabbi Dr. Sali Levy." Tirosh. Jewish, Slavic & Oriental Studies 18 (2018): 110–23. http://dx.doi.org/10.31168/2658-3380.2018.18.3.2.

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This paper presents an article by Rabbi Dr. S. Levi published in 1921 in Monatsschrift für Geschichte und Wissenschaft des Judentums about French Jewish army rabbis and Jewish praying books from World War One distributed among Jewish soldiers in French Army. Levi served himself as an Army Rabbi in German army. He used his own experience to highlight the most interesting and significant features of French approach toward Jewish military service in time of war. This article of Rabbi Levi serves as an example of continuation of the pre-war GermanJewish self-identification as both culturally German and religiously Jewish. However, it also presented an interesting depiction of the technical details about French Army praying book. In contrast to German Jewry, their French counterparts published praying book under the auspices of the Chief Rabbi of France and distributed in with the help of his office. Levi pointed out that these praying books reflect in their content the original war time religiosity, which was still important to reconstruct and to reflect about in the after war epoch. The Great Rabbi of France gave his sanctions for the publishing the Prayer for the War Time and Prayer for France, both prayers bore his name and originated in the years 1914-1915. Dr. Levi justly saw in the figure of the Great Rabbi a central authority for the Jews in the French uniform. The French praying book was designated not only for the French Jews of European origin who mostly had had Alsace and Lorraine roots, but also for the Sephardic Jews from the French colonies in North Africa (Morocco and Algiers). Because of this fact, this praying book was different in its content from both German Jewish praying books. It provided two versions of the Hebrew texts in accordance to Ashkenazi and Sephardic rites. Both versions, the Ashkenazi (and the German one as Dr. Levi called it) and the Sephardic were printed together. Dr. Levi thought that it was necessary to highlight the differences between these two Jewish rites. He found that there elements in general were of great importance whereas his Ashkenazi German readers would find it confusing to differentiate between ritual nuances with their Sephardic co-religionists, namely in the conducting the death-, burial- and mourning praying ceremonies. In accordance to the articles published in the Monatsschrift Jewish experiences during the First World War were positively evaluated by their German co-religionists.

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Figer, A., E. Shacham-Shmueli, E. Liberman, E. Sagiv, M. J. Hall, O. Dolkart, D. Kazanov, et al. "Effect of the I1307K polymorphism in APC confers a higher risk for polyp recurrence in Jewish Ashkenazi carriers." Journal of Clinical Oncology 27, no. 15_suppl (May 20, 2009): e22003-e22003. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22003.

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e22003 Background: The I1307K adenomatous polyposis coli gene variant, prevalent among Ashkenazi Jews, may increase risk for colorectal neoplasia [colorectal cancer (CRC) and CR adenoma]. We studied the clinical importance of this polymorphism in 3283 Israelis undergoing colonoscopic assessment. Methods: Blood samples and risk factor information were collected from individuals undergoing colonoscopic examination at our medical center. Germline genetic analysis for the APC I1307K variant was performed using real-time PCR for DNA extracted from peripheral mononuclear cells. Results: The overall prevalence of the I1307K polymorphism was 8.1% (10.2% among Ashkenazi while only 2.5% among Sephardic Jews, p=0.001). The overall adjusted odds ratio (OR) for CR neoplasia among carriers was 1.3 (1.0 -1.7, p=0.049). Among Ashkenazi Jews, the I1307K variant was significantly more prevalent among persons with a personal or family history (1st degree) of CR neoplasia (p=0.01) as compared to Ashkenazi Jews with no family history. The histopathological features of adenomas and cancers did not differ between carriers and non-carriers. No interactions were found between the I1307K variant and demographic, lifestyle, or dietary modifiers that independently modulated the risk for CR neoplasia. Conclusions: In the general population, the APC I1307K variant does not change the risk or prognosis of colorectal neoplasia in carriers and does not necessarily change their clinical practice. Nevertheless, the variant, which is more prevalent among high risk individuals of Ashkenazi Jewish origin, is an important risk factor for the assessment of recurrence of neoplasia as it confers a higher risk for polyp recurrence in this population. No significant financial relationships to disclose.

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30

Fishman, Boris, Adi Leiba, Gilad Twig, Gadi Shlomai, Omri Orr, Regev Landau, Estela Derazne, and Ehud Grossman. "Ethnic Variability Among Jews is Associated With Hypertension: Results of a Nationwide Study of 1.44 Million Adolescents." American Journal of Hypertension 33, no. 2 (November 28, 2019): 175–81. http://dx.doi.org/10.1093/ajh/hpz167.

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Abstract BACKGROUND Adolescent hypertension is a major cardiovascular risk factor that may be related to ethnic variability. Contemporary Jews can be divided into three distinct ethnic groups: Ashkenazi, Oriental, and Sephardi origins. The aim of our study was to investigate the association of ethnicity and hypertension among Israeli adolescents. METHODS We conducted a population retrospective cohort study of males and females, aged 16–19, eligible for mandatory military service in the Israeli Defense Forces (IDF) between 1994 and 2013. Medical and sociodemographic data, including body mass index (BMI), age, years of education, residential socioeconomic status, and parents’ country of birth, were retrieved. Ethnicity of the parents was based upon their country of birth. The examinees were assigned to a certain ethnicity only if both parents had the same ethnicity. Logistic regression models were applied to compute the odds ratio (OR) and 95% confidence intervals (95% CI) for hypertension among the different Jewish ethnicities. RESULTS The final cohort included 1,445,176 adolescents, of whom 716,289 were born to parents of the same Jewish ethnicity. Ashkenazi ethnicity was associated with an increased risk of hypertension compared to Sephardi and Oriental ethnicities (adjusted OR of 2.93 (95% CI, 2.52–3.41) and 1.56 (1.38–1.77), respectively). Oriental ethnicity was associated with an increased risk of hypertension compared with the Sephardi ethnicity (OR of 1.91 (1.60–2.27)). Similar results were observed in a sub-analysis, which included only Israeli-born examinees. CONCLUSIONS Our results indicate that ethnicity is significantly associated with hypertension among Jewish adolescents. Ashkenazi Jews had the highest risk of hypertension.

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Eshel, G., A. Gulik, N. Halperin, E. Avrahami, H. R. Schumacher, D. J. McCarty, and D. Caspi. "Hereditary chondrocalcinosis in an Ashkenazi Jewish family." Annals of the Rheumatic Diseases 49, no. 7 (July 1, 1990): 528–30. http://dx.doi.org/10.1136/ard.49.7.528.

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32

Lim, F. "An Ashkenazi Jewish woman presenting with favism." Journal of Clinical Pathology 58, no. 3 (March 1, 2005): 317–19. http://dx.doi.org/10.1136/jcp.2004.017426.

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Shadmi, Erella. "Gendering and racializing israeli jewish ashkenazi whiteness." Women's Studies International Forum 26, no. 3 (May 2003): 205–19. http://dx.doi.org/10.1016/s0277-5395(03)00051-7.

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Weinstein, Lenore B. "Selected Genetic Disorders Affecting Ashkenazi Jewish Families." Family & Community Health 30, no. 1 (January 2007): 50–62. http://dx.doi.org/10.1097/00003727-200701000-00007.

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Rund, Deborah G., Adir Shaulov, and Dvora Filon. "Haplotype Analysis of -α3.7 Chromosomes in Israeli Ethnic Groups Reveals Unexpected Heterogeneity and Demonstrates Ashkenazi Founder Groups in Carriers of α-Thalassemia." Blood 108, no. 11 (November 16, 2006): 1591. http://dx.doi.org/10.1182/blood.v108.11.1591.1591.

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Abstract α-thalassemia (α-thal) is among the world’s most common single gene disorders, whose prevalence in the “malaria belt” is attributed to a selective advantage of carriers. Our previous studies demonstrated a high frequency of deletional α-thal (nearly all heterozygotes or homozygotes for -α3.7) in Ashkenazi Jews (carrier frequency of 7.9%, allele frequency of 0.04) (Rund et al, 2004). Ashkenazim resided in temperate climates for centuries and were not subject to malarial selection pressure, and their carriership for β-thalassemia is very low (estimated <0.1%). To elucidate the genetic mechanism(s) responsible for this high frequency of α-thal, we performed α-globin haplotype analysis on 170 chromosomes (chromos) of 85 homozygotes for -α3.7. We compared chromos of several ethnic groups: Jews (Ashkenazim: 54 chromos, Yemenites: 54 chromos, Iraqis: 14 chromos, others: 14 chromos), Arabs (28 chromos), and Druze (6 chromos). Using PCR and digestion with ApaI and RsaI, it was determined that all but three of the chromos are of the -α3.7I type. Haplotype analysis was performed for polymorphic sites identified by Higgs (1986), using PCR and restriction enzyme digestion. Altogether, 13 haplotypes were found. Unexpectedly, at least 5 haplotypes were found among the Ashkenazim with a large number of chromos carrying unknown haplotypes. Interestingly, 26/54 of Ashkenazi chromos carried haplotype IIIb which is found rarely in Europe and Saudi Arabia but most commonly in Melanesia and Papua New Guinea (Flint, 1992). In contrast, only 3/116 nonAshkenazi chromos carried haplotype IIIb. Interestingly there was little overlap in haplotypes between Ashkenazim and the various ethnic groups studied including the other Jewish groups, with 2 exceptions. First, Arabs and Yemenite Jews each were found to have around 50% chromos which carried haplotype Ia. Additionally, 10% of Ashkenazim and 20% of Yemenites had chromos carrying haplotype IIh, which is a haplotype originally described in an Australiam Aboriginal tribe (Roberts-Thomson, 1996). There was no overlap between Arabs and Druze. In conclusion, α-globin haplotype analysis demonstrates diversity within an apparently homogeneous ethnic group (Ashkenazim homozygous for -α3.7) and demonstrates founder effects in Ashkenazim carrying α-globin gene rearrangements.

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Futaki, Makoto, Takayuki Yamashita, Hiroshi Yagasaki, Tatsushi Toda, Miharu Yabe, Shunichi Kato, Shigetaka Asano, and Tatsutoshi Nakahata. "The IVS4 + 4 A to T mutation of the Fanconi anemia geneFANCC is not associated with a severe phenotype in Japanese patients." Blood 95, no. 4 (February 15, 2000): 1493–98. http://dx.doi.org/10.1182/blood.v95.4.1493.004k35_1493_1498.

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Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital anomalies, aplastic anemia, and a susceptibility to leukemia. There are at least 8 complementation groups (A through H). Extensive analyses of the FA group C gene FANCC in Western countries revealed that 10% to 15% of FA patients have mutations of this gene. The most common mutation is IVS4 + 4 A to T (IVS4), a splice mutation in intron 4, which has been found only in patients of Ashkenazi Jewish ancestry. When we screened 29 Japanese patients (20 unrelated patients and 4 families) using polymerase chain reaction–single strand conformation polymorphism, we found 8 unrelated patients homozygous for IVS4. This is apparently the first non–Ashkenazi-Jewish population for whom this mutation has been detected. The Ashkenazi Jewish patients homozygous for IVS4 have a severe phenotype, in comparison with other FA patients. Our analyses of Japanese patients indicate no significant difference between IVS4 homozygotes and other patients with regard to severity of a clinical phenotype. Thus, ethnic background may have a significant effect on a clinical phenotype in FA patients carrying the same mutation.

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Hodak, E., M. Lapidoth, Y. Kohn, M. David, C. Brautbar, B. Kfir, R. Narinski, C. Safirman, L. Maron, and T. Klein. "Mycosis fungoides: HLA class II associations among Ashkenazi and non-Ashkenazi Jewish patients." British Journal of Dermatology 145, no. 6 (December 2001): 974–80. http://dx.doi.org/10.1046/j.1365-2133.2001.04496.x.

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Stillman, Norman A. "Moroccan Jews in Modern Times." European Judaism 52, no. 2 (September 1, 2019): 7–17. http://dx.doi.org/10.3167/ej.2019.520202.

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Until the mid twentieth century, Moroccan Jewry constituted the largest non-Ashkenazi Jewish community and had more than double the population of any other Jewish community in the Islamic world. Under the influence of the Alliance Israélite Universelle school network, French colonialism, the experience of World War II and the innate tensions between Zionism and Arab nationalism, the Jews of Morocco underwent a variety of transformations and ultimately the dissolution of the community as a result of the mass exodus to Israel, France and North America.

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Demacio, Paula C., and Peter N. Ray. "α-Catulin maps to the familial dysautonomia region on 9q31." Genome 44, no. 6 (December 1, 2001): 990–94. http://dx.doi.org/10.1139/g01-103.

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Familial dysautonomia is a severe autosomal-recessive neurodegenerative disease that primarily affects the Ashkenazi Jewish population. We present the mapping of α-catulin and show that it maps precisely to the familial dysautonomia candidate region on 9q31. Patient sequence analysis identified two new sequence variants, which show linkage disequilibrium with this disease. A G to A transition at nucleotide 423 in exon 3 is a silent base change that does not alter the Val residue at position 141. A G to C transversion at nucleotide 1579 changes the Glu at postion 527 to Gln. These base changes were analyzed in several patients, unaffected Ashkenazi Jewish controls, and non-Jewish controls. Because of the presence of these sequence variants in several unaffected individuals, α-catulin is unlikely to be the causative gene in this disease.Key words: familial dysautonomia, α-catulin, sequence variant.

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Levine, Douglas A., Peter A. Argenta, Cindy J. Yee, David S. Marshall, Narciso Olvera, Faina Bogomolniy, Jamal A. Rahaman, et al. "Fallopian Tube and Primary Peritoneal Carcinomas Associated With BRCA Mutations." Journal of Clinical Oncology 21, no. 22 (November 15, 2003): 4222–27. http://dx.doi.org/10.1200/jco.2003.04.131.

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Purpose: The aims of this study were to determine the incidence of BRCA mutations among Ashkenazi Jewish patients with fallopian tube carcinoma (FTC) or primary peritoneal carcinoma (PPC), to study the clinicopathologic features of these cancers, and to estimate the risks of these cancers in association with a BRCA mutation. Patients and Methods: A retrospective review at two institutions identified 29 Jewish patients with FTC and 22 Jewish patients with PPC. These patients were genotyped for the three Ashkenazi Jewish BRCA founder mutations (185delAG and 5382insC in BRCA1 and 6174delT in BRCA2). Surgical and pathologic information, family history, and survival data were obtained from hospital records. All statistical tests were two sided. Results: Germline BRCA mutations were identified in five of 29 patients with FTC (17%) and nine of 22 patients with PPC (41%). Mutation carriers had a younger mean age at diagnosis than patients without a mutation (60 v 70 years; P = .002). The overall median survival was 148 months for mutation carriers and 41 months for patients without a mutation (P = .04). For BRCA mutation carriers, the lifetime risks of FTC and PPC were 0.6% and 1.3%, respectively. Conclusion: Substantial proportions of Ashkenazi Jewish patients with FTC or PPC are BRCA mutation carriers. Patients with BRCA-associated FTC or PPC are younger at diagnosis and have improved survival compared with patients without a BRCA mutation. Although the lifetime risks of FTC or PPC for patients with BRCA heterozygotes are greater than those for the general population, the absolute risks seem relatively low.

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Mitchell, Michael J., Roger Mountfield, Rachel Butler, Anwar Alhaq, Letian Dai, Geoffrey F. Savidge, and Paula Bolto-Maggs. "Spectrum of Factor XI Mutations in a Large Cohort - 116 Index Cases, 141 Mutations." Blood 104, no. 11 (November 16, 2004): 1027. http://dx.doi.org/10.1182/blood.v104.11.1027.1027.

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Abstract Factor XI deficiency (MIM 264900) is an autosomal bleeding disorder of variable clinical severity. In contrast to haemophilia A or B the clinical symptoms do not correlate well with plasma levels of factor XI; it is therefore difficult to predict the bleeding tendency from either the factor level or the molecular defect. FXI deficiency is particularly common in the Ashkenazi Jews with a heterozygous frequency of ~9%, associated with two common founder mutations - E117X (Type II) and F283L (Type III). Recent studies have shown that mutations causing Factor XI deficiency are heterogeneous outside the Ashkenazi Jewish population. We have studied 116 index cases from an ethnically diverse U.K. population in order to better understand the spectrum of mutations responsible for factor XI deficiency. Of the index cases, 25 were of Ashkenazi Jewish ancestry, 2 were of Afro-Caribbean origin, 9 Asian, 3 Arabic, 1 New Zealand Maori and 73 white Caucasian; ancestry was unknown in three patients. We have identified a total of 141 causative mutations in 107 patients. Of the nine patients in whom a mutation remained unidentified, six were reproducibly factor XI deficient with no evidence of inhibitors, but in three the diagnosis was inconclusive. The 141 mutations included 54 different sequence variants and 5 whole gene deletions of which there are at least two forms. Of the variants, forty-one are missense mutations, eight nonsense mutations, four splice site mutations and one small deletion. Twenty-seven of these varients are novel and reported here for the first time. Three common mutations were identified, with similar frequencies. The Type II mutation (E117X) accounted for 14.9% of the total mutations, the Type III mutation (F283L) 12.1% and the C128X “UK mutation” 11.3%. Together these three mutations account for more than a third (38.3%) of the total. Outside of these three ‘common’ mutations, no other mutation was identified in more than 3 individuals. Despite the heterogeneous nature of factor XI mutations, with mutations being identified in all 15 exons of the factor XI gene, almost two thirds (65%) of the mutations could be covered in just 3 amplicons - exons 5, 15 and 8/9/10. All patients with Ashkenazi Jewish ancestry had Type II and/or Type III mutations. Three Jewish patients were compound heterozygous for the Type II mutation and another ‘non-Jewish’ mutation. One Arabic patient was homozygous for the Type II mutation. The C128X mutation was only identified in patients with a clear British ancestry. However, not all repeat mutations were restricted to a single ethnic group. Four mutations were identified in more than one ethnic group, three of which were located at CpG sites. This study confirms the ethnic and molecular heterogeneity of factor XI deficiency despite its historical association with the Ashkenazi Jewish population and the Type II & Type III mutations. Our study also reinforces the difficulty of predicting clinical phenotype from molecular defect in factor XI deficiency.

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Kwon, Oh Joong, Chaim Brautbar, Naomi Weintrob, Eliot Sprecher, Cilly Saphirman, Konstantine Bloch, Orit Pinhas-Hamiel, Sara Assah, Pnina Vardi, and Shoshana Israel. "Immunogenetics of HLA class II in Israeli Ashkenazi Jewish, Israeli non-Ashkenazi Jewish, and in Israeli Arab IDDM patients." Human Immunology 62, no. 1 (January 2001): 85–91. http://dx.doi.org/10.1016/s0198-8859(00)00231-7.

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43

Streifler, J., M. Golomb, and N. Gadoth. "Psychiatric Features of Adult GM2 Gangliosidosis." British Journal of Psychiatry 155, no. 3 (September 1989): 410–13. http://dx.doi.org/10.1192/bjp.155.3.410.

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The report describes three unrelated Ashkenazi Jewish women with adult GM2 gangliosidosis in whom mental symptoms were prominent, mimicking different psychiatric disorders, and thus delaying accurate diagnosis.

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Chenya, Tal. "David Yellin: 'Ashkenazi' and Middle Eastern Jew." Iyunim Multidisciplinary Studies in Israeli and Modern Jewish Society 38 (December 31, 2022): 115–41. http://dx.doi.org/10.51854/bguy-38a145.

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This article analyzes the dual identity of David Yellin as a member of the Ashkenazi community with a Middle Eastern Jewish identity (Benei Ha'aretz) exemplified through his educational and public activities from the late 19th century through the 1930s. The article begins by detailing the multiple sources that molded Yellin’s character, family life, education, social milieu, and Middle Eastern identity with its connections to the Arab population. This is followed by an exposition of Yellin's views and activity with respect to the key issues of his time. The educational policies and decisions he implemented are illustrative of Old Yishuv influences, mainly those of the Ashkenazi community. This is particularly noticeable in the controversies between the intelligentsia of Jaffa and Jerusalem at the close of the Ottoman era, while his views of relations between the New Yishuv and the Arabs clearly reflect Middle Eastern Jewish norms. As the article goes on to show, Yellin’s views on public policy were not necessarily an attempt at compromise but rather an authentic synthesis of early influences on his character, Ashkenazi and Middle Eastern.

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Kosstrin, Hannah. "Modernist Continuities: Queer Jewish Dances, the Holocaust, and the AIDS Crisis." Dance Research Journal 54, no. 2 (August 2022): 70–85. http://dx.doi.org/10.1017/s0149767722000171.

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AbstractDuring the height of the 1980s AIDS epidemic in the United States, LGBTQ+ Jewish choreographers agitated for gay rights by using Holocaust allusions to address the AIDS crisis. Modernist practices in their work generate a long modernist midcentury that reframes established historical binaries between modernist and postmodernist concert dance modalities. This article argues that choreographers who drew upon Holocaust memory to address the AIDS crisis engendered a queer Jewish imaginary by engaging Jewishness from ethnic Ashkenazi (European) Jewish American lineages of modernist dance as social justice, Jewish cyclical temporal logics, and histories of being scapegoated for societal ills. It demonstrates how Meredith Monk's Book of Days (1988), David Dorfman's Sleep Story (1987), and Arnie Zane's The Gift/No God Logic (1987) fostered Jewish queerness in modernist artistic practices during a time that LGBTQ+ American Jews developed a queer Jewish consciousness. These choreographers’ works connect queer Jewish modernisms to varied temporalities of global modernity.

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Mayer, Yakov Z. "Elijah of Fulda and the 1710 Amsterdam Edition of the Palestinian Talmud1." Studia Rosenthaliana: Journal of the History, Culture and Heritage of the Jews in the Netherlands 46, no. 1 (November 1, 2020): 117–35. http://dx.doi.org/10.5117/sr2020.1-2.006.maye.

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Abstract Elijah of Fulda was the first Ashkenazi Jew in the Early Modern period to write a commentary on the Palestinian Talmud, printed in Amsterdam in 1710. Through a close reading of the nine approbations that preface Elijah’s commentary, this article reconstructs his itinerary throughout Europe and his journey from relative obscurity to the center of the Hebrew and Jewish book world of his day ‐ Amsterdam. The article argues that although other commentaries replaced that of Elijah of Fulda in popularity in subsequent editions, he should be remembered as the first to establish a tradition of Ashkenazic study of the Palestinian Talmud, and as the scholar who shaped the impagination of subsequent editions.

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Scott, Stuart A., Lisa Edelmann, Ruth Kornreich, Monica Erazo, and Robert J. Desnick. "CYP2C9,CYP2C19andCYP2D6allele frequencies in the Ashkenazi Jewish population." Pharmacogenomics 8, no. 7 (July 2007): 721–30. http://dx.doi.org/10.2217/14622416.8.7.721.

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Fedick, A. M., L. Shi, C. Jalas, N. R. Treff, J. Ekstein, R. Kornreich, L. Edelmann, L. Mehta, and S. A. Savage. "Carrier screening ofRTEL1mutations in the Ashkenazi Jewish population." Clinical Genetics 88, no. 2 (September 5, 2014): 177–81. http://dx.doi.org/10.1111/cge.12459.

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Kimchi, Adva, Samer Khateb, Rong Wen, Ziqiang Guan, Alexey Obolensky, Avigail Beryozkin, Shoshi Kurtzman, et al. "Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population." Ophthalmology 125, no. 5 (May 2018): 725–34. http://dx.doi.org/10.1016/j.ophtha.2017.11.014.

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Zinberg, Randi E., Ruth Kornreich, Lisa Edelmann, and Robert J. Desnick. "PRENATAL GENETIC SCREENING IN THE ASHKENAZI JEWISH POPULATION." Clinics in Perinatology 28, no. 2 (June 2001): 367–82. http://dx.doi.org/10.1016/s0095-5108(05)70089-0.

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Journal articles on the topic 'Ashkenazi Jewish'

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