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Articoli di riviste sul tema "Heterozygotes"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 21 febbraio 2023

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1

Wicker, L. S., B. J. Miller, P. A. Fischer, A. Pressey, and L. B. Peterson. "Genetic control of diabetes and insulitis in the nonobese diabetic mouse. Pedigree analysis of a diabetic H-2nod/b heterozygote." Journal of Immunology 142, no. 3 (February 1, 1989): 781–84. http://dx.doi.org/10.4049/jimmunol.142.3.781.

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Abstract The development of autoimmune type 1 diabetes mellitus in man and the nonobese diabetic (NOD) mouse is greatly influenced by a gene linked to the MHC. Although homozygosity at the NOD MHC is required for a high prevalence of disease, during backcross studies we have found a small number of diabetic H-2nod/b MHC heterozygotes. These diabetic heterozygotes could either represent a crossover event between the MHC and a putative MHC-linked diabetogenic gene or, alternatively, they could indicate that there is a dominant MHC-linked diabetic gene that has low penetrance in the heterozygous

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2

Everse, Stephen J., Thomas Orfeo, Kathleen E. Brummel-Ziedins, Matthew F. Hockin, and Kenneth G. Mann. "Predicting Thrombosis in Factor VLeiden Heterozygotes." Blood 112, no. 11 (November 16, 2008): 1818. http://dx.doi.org/10.1182/blood.v112.11.1818.1818.

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Abstract Factor VLeiden (G1691A;R506Q) is an autosomal dominant allele displaying high prevalence (3–7%) in the United States Caucasian population and a high incidence of venous thrombosis in homozygotes (50% lifetime risk) but reduced penetrance in heterozygote carriers (&lt;10% lifetime risk). Factors that precipitate or suppress the expression of the thrombotic phenotype in factor VLeiden heterozygotes are not well defined except for relatively infrequent instances of coexpression of other thrombophilic risk factors, e.g. the prothrombin G20210A mutant. Our goal is to mathematically eva

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3

Arora, Jatin, Federica Pierini, Paul J. McLaren, Mary Carrington, Jacques Fellay, and Tobias L. Lenz. "HLA Heterozygote Advantage against HIV-1 Is Driven by Quantitative and Qualitative Differences in HLA Allele-Specific Peptide Presentation." Molecular Biology and Evolution 37, no. 3 (October 22, 2019): 639–50. http://dx.doi.org/10.1093/molbev/msz249.

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Abstract Pathogen-mediated balancing selection is regarded as a key driver of host immunogenetic diversity. A hallmark for balancing selection in humans is the heterozygote advantage at genes of the human leukocyte antigen (HLA), resulting in improved HIV-1 control. However, the actual mechanism of the observed heterozygote advantage is still elusive. HLA heterozygotes may present a broader array of antigenic viral peptides to immune cells, possibly resulting in a more efficient cytotoxic T-cell response. Alternatively, heterozygosity may simply increase the chance to carry the most protective

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Falchetti, Alberto, Annamaria Morelli, Andrea Amorosi, Francesco Tonelli, Silvia Fabiani, Valentina Martineti, Roberto Castello, Lino Furlani, and Maria Luisa Brandi. "Allelic Loss in Parathyroid Tumors from Individuals Homozygous for Multiple Endocrine Neoplasia Type 11." Journal of Clinical Endocrinology & Metabolism 82, no. 7 (July 1, 1997): 2278–82. http://dx.doi.org/10.1210/jcem.82.7.4042.

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Homozygosity for the multiple endocrine neoplasia type 1 (MEN1) gene mutation was described in two of three affected siblings of a kindred in which both parents and the third daughter were heterozygotes. Surprisingly, in the two homozygotes, the disease history did not differ from the one of the heterozygotes. In the attempt to unravel genetic differences in parathyroid tumorigenesis between homozygotes and heterozygotes, restriction fragment length polymorphism analysis and microsatellite PCR analysis for loss of heterozygosity (LOH) at the MEN1 gene region on chromosome 11q13 was performed i

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5

Dai, K., C. B. Gillies, and A. E. Dollin. "Synaptonemal complex analysis of domestic sheep (Ovis aries) with Robertsonian translocations. II. Trivalent and pairing abnormalities in Massey I and Massey II heterozygotes." Genome 37, no. 4 (August 1, 1994): 679–89. http://dx.doi.org/10.1139/g94-096.

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Zygotene and pachytene spermatocytes from Massey I (t1 5;26) and Massey II (t2 8;11) translocation heterozygotes each contained one trivalent, often delayed in pairing, while cells from double Massey translocation heterozygotes had two such trivalents. As meiosis progressed, trivalents became fully paired, with acrocentric axes in a cis configuration. Abnormal pairing configurations often resulted from interactions between unpaired chromosome axes or segments. However, when two Massey trivalents were present in the same nucleus, there was no pairing interaction between them. In different Masse

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6

Ng, Kevin, Erron W. Titus, Krystien V. Lieve, Thomas M. Roston, Andrea Mazzanti, Frederick H. Deiter, Isabelle Denjoy, et al. "An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2 -Catecholaminergic Polymorphic Ventricular Tachycardia." Circulation 142, no. 10 (September 8, 2020): 932–47. http://dx.doi.org/10.1161/circulationaha.120.045723.

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Background: Genetic variants in calsequestrin-2 ( CASQ2 ) cause an autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), although isolated reports have identified arrhythmic phenotypes among heterozygotes. Improved insight into the inheritance patterns, arrhythmic risks, and molecular mechanisms of CASQ2 -CPVT was sought through an international multicenter collaboration. Methods: Genotype-phenotype segregation in CASQ2 -CPVT families was assessed, and the impact of genotype on arrhythmic risk was evaluated using Cox regression models. Putative dominant CASQ

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7

Bonvicino, Cibele R., Paulo S. D'Andrea, and Pavel M. Borodin. "Pericentric inversion in natural populations of Oligoryzomys nigripes (Rodentia: Sigmodontinae)." Genome 44, no. 5 (October 1, 2001): 791–96. http://dx.doi.org/10.1139/g01-080.

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We analysed polymorphism for pericentric inversion in chromosome 3 of Oligoryzomys nigripes (Rodentia: Sigmodontinae) in several populations in Brazil and examined the meiotic behaviour of this chromosome in heterozygotes. We observed an orderly pairing of all chromosomes at pachytene in heterozygotes for the inverted chromosome 3. No indication of meiotic arrest and germ-cell death was found. Electron microscopy of synaptonemal complexes and conventional meiotic analysis indicated strictly nonhomologous synapsis and crossing-over suppression in the inverted region in the heterozygotes, which

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8

Rossi, Enrico, Max K. Bulsara, John K. Olynyk, Digby J. Cullen, Lesa Summerville, and Lawrie W. Powell. "Effect of Hemochromatosis Genotype and Lifestyle Factors on Iron and Red Cell Indices in a Community Population." Clinical Chemistry 47, no. 2 (February 1, 2001): 202–8. http://dx.doi.org/10.1093/clinchem/47.2.202.

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Abstract Background: Heterozygotes for the C282Y mutation of the HFE gene may have altered hematology indices and higher iron stores than wild-type subjects. Methods: We performed a cross-sectional analysis of 1488 females and 1522 males 20–79 years of age drawn from the Busselton (Australia) population study to assess the effects of HFE genotype, age, gender, and lifestyle on serum iron and hematology indices. Results: Male C282Y heterozygotes had increased transferrin saturation compared with the wild-type genotype. Neither male nor female heterozygotes had significantly increased ferritin v

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9

Girolami, Antonio, Elisabetta Cosi, Silvia Ferrari, Bruno Girolami, and Maria L. Randi. "Thrombotic Events in Homozygotes with a Proven or Highly Probable Arg304Gln Factor VII Mutation (FVII Padua)1): Only Limited Replacement Therapy is Needed in Case of Surgery." Cardiovascular & Hematological Disorders-Drug Targets 19, no. 3 (October 21, 2019): 233–38. http://dx.doi.org/10.2174/1871529x19666190308114842.

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Objective: To investigate the prevalence of thrombotic events among patients with proven or highly probable homozygosis for the Arg304Gln (Factor VII Padua) defect or compound heterozygosis containing the Arg304Gln mutation. Methods: Homozygotes and compound heterozygotes proven by molecular studies to have the Arg304Gln mutation were gathered from personal files and from two PubMed searches. In addition, patients with probable homozygosis on the basis of clotting tests (discrepancies among Factor VII activity levels according to the tissue thromboplastin used) were also gathered. Results: 30

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McClelland, Erin E., Dustin J. Penn, and Wayne K. Potts. "Major Histocompatibility Complex Heterozygote Superiority during Coinfection." Infection and Immunity 71, no. 4 (April 2003): 2079–86. http://dx.doi.org/10.1128/iai.71.4.2079-2086.2003.

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ABSTRACT Genes of the major histocompatibility complex (MHC) play a critical role in immune recognition, and many alleles confer susceptibility to infectious and autoimmune diseases. How these deleterious alleles persist in populations is controversial. One hypothesis postulates that MHC heterozygote superiority emerges over multiple infections because MHC-mediated resistance is generally dominant and many allele-specific susceptibilities to pathogens will be masked by the resistant allele in heterozygotes. We tested this hypothesis by using experimental coinfections with Salmonella enterica (

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11

Aghamohammadi, Asghar, Seyed M. Akrami, Marjan Yaghmaie, Nima Rezaei, Gholamreza Azizi, Mehdi Yaseri, Hassan Nosrati, and Majid Zaki-Dizaji. "Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation." Sultan Qaboos University Medical Journal [SQUMJ] 18, no. 4 (March 28, 2019): 440. http://dx.doi.org/10.18295/squmj.2018.18.04.003.

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Objectives: Ataxia-telangiectasia (A-T) is an autosomal recessive multisystem disorder characterised by cerebellar degeneration, telangiectasia, radiation sensitivity, immunodeficiency, oxidative stress and cancer susceptibility. Epidemiological research has shown that carriers of the heterozygous ataxia-telangiectasia mutated (ATM) gene mutation are radiosensitive to ionising irradiation and have a higher risk of cancers, type 2 diabetes and atherosclerosis. However, there is currently no fast and reliable laboratory-based method to detect heterozygous ATM carriers for family screening and pl

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Yap, S., K. A. O’Donnell, C. O’Neill, P. D. Mayne, P. Thornton та E. Naughten. "Factor V Leiden (Arg506Gln), a Confounding Genetic Risk Factor but not Mandatory for the Occurrence of Venous Thromboembolism in Homozygotes and Obligate Heterozygotes for Cystathionine β-synthase Deficiency". Thrombosis and Haemostasis 81, № 04 (1999): 502–5. http://dx.doi.org/10.1055/s-0037-1614513.

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SummaryThrombosis is the major cause of morbidity and mortality in individuals with untreated classical homocystinuria (HCU) due to cystathionine β-synthase deficiency and characterised by severe hyperhomocysteinaemia. In addition, mild and moderate hyperhomocysteinaemia and Factor V Leiden (FVL; Arg506Gln) have recently been identified as thrombotic risk factors. FVL, which renders resistance to activated Protein C, is the most common inherited genetic risk factor for thrombosis with a high allelic frequency amongst Caucasians. As thrombophilia is a multigenic disorder, 26 individuals with HC

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13

Ji, Yuanfu, Wayne A. Raska, Marcos De Donato, M. Nurul Islam-Faridi, H. James Price, and David M. Stelly. "Identification and distinction among segmental duplication-deficiencies by fluorescence in situ hybridization (FISH)-adorned multivalent analysis." Genome 42, no. 4 (August 1, 1999): 763–71. http://dx.doi.org/10.1139/g99-012.

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Most simple reciprocal translocation homozygotes and heterozygotes are euploid, and normal in genotype. However, translocation heterozygotes form six types of numerically balanced meiotic products. The cross of a translocation heterozygote with a normal individual can yield normal progeny, translocation heterozygotes, or any of four segmentally aneuploid duplication-deficient types (dp-dfs). Using metaphase I configuration analysis, most dp-dfs can be distinguished easily from normal and heterozygous translocations. However, identification of the four dp-df types is often impossible unless the

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14

Ro, Seungil, Sung Jin Hwang, Melodie Muto, William Keith Jewett, and Nick J. Spencer. "Anatomic modifications in the enteric nervous system of piebald mice and physiological consequences to colonic motor activity." American Journal of Physiology-Gastrointestinal and Liver Physiology 290, no. 4 (April 2006): G710—G718. http://dx.doi.org/10.1152/ajpgi.00420.2005.

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It has been assumed that in piebald lethal mice that develop megacolon, impaired colonic motor activity is restricted to the aganglionic distal colon. Peristaltic mechanical recordings, immunohistochemistry, and quantitative PCR were used to investigate whether regions of the colon, other than the aganglionic segment, may also show anatomical modifications and dysfunctional colonic motor activity. Contrary to expectations, colonic migrating motor complexes (MMCs) were absent along the whole colon of piebald lethal homozygote mice and severely impaired in heterozygote siblings. Aganglionosis wa

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15

Plöchl, E., J. P. Colombo, B. Wermuth, and K. M. Gibson. "Increased plasma amylase in the family of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency." Clinical Chemistry 38, no. 2 (February 1, 1992): 307–9. http://dx.doi.org/10.1093/clinchem/38.2.307.

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Abstract A patient with 3-hydroxy-3-methylglutaryl-CoA lyase (HMG-CoA lyase, EC 4.1.3.4) deficiency presented consistently above-normal values of plasma amylase (EC 3.2.1.1). Activities measured were in the lower normal range in family members not proven heterozygotes and in the upper normal range in the proven heterozygotes. Heterozygosity was proven by intermediate HMG-CoA lyase activities determined in cultured fibroblasts and in lymphocytes in the parents and the paternal grandmother. Because all of the family members had diseases of the pancreas, colon, and liver, we question whether the

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Ho, PJ, J. Rochette, CA Fisher, B. Wonke, MK Jarvis, A. Yardumian, and SL Thein. "Moderate reduction of beta-globin gene transcript by a novel mutation in the 5' untranslated region: a study of its interaction with other genotypes in two families." Blood 87, no. 3 (February 1, 1996): 1170–78. http://dx.doi.org/10.1182/blood.v87.3.1170.bloodjournal8731170.

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We have identified two individuals of Greek Cypriot origin with thalassemia intermedia. Molecular analysis has shown that each individual is a compound heterozygote for a previously described beta zero thalassemia allele and a novel mutation, C-->G in position +33, in the 5′ untranslated region of the beta globin gene. In both families the beta +33 allele is associated with the same beta haplotype (-++- ) suggesting that it is likely to be of a single origin, beta-cDNAs from normal and mutant beta alleles were isolated from peripheral blood reticulocytes using the technique of reverse trans

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Leebeek, F. W. G., J. Stibbe, E. A. R. Knot, C. Kluft, M. J. Gomes та M. Beudeker. "Mild Haemostatic Problems Associated with Congenital Heterozygous α2-Antiplasmin Deficiency". Thrombosis and Haemostasis 59, № 01 (1988): 096–100. http://dx.doi.org/10.1055/s-0038-1646773.

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SummaryA Dutch family, of which 13 members are heterozygotes, deficient for α2-antiplasmin (α2-AP) is reported. Clinical studies showed that 2 heterozygotes had a mild bleeding tendency, which presented as bleeding episodes after tooth extraction and after surgery and, in one patient, also as excessive menstruation. Laboratory investigations revealed an α2-AP activity of 62% (51-71) (median and range) and an antigen level of 60% (60-66). The plasminogen binding as well as the fibrin binding properties of α2-AP were normal. Plasminogen concentrations were significantly higher in the heterozygot

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Suh, Ji Hyung, Ik Hee Ryu, Jin Pyo Hong, Ja Yoon Moon, Jin Seok Choi, Ikhyun Jun, Tae-Im Kim, and Eung Kweon Kim. "Phenotypes of Granular Corneal Dystrophy Type 2 among Koreans in Their Twenties." Journal of the Korean Ophthalmological Society 63, no. 12 (December 15, 2022): 965–72. http://dx.doi.org/10.3341/jkos.2022.63.12.965.

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Purpose: Granular corneal dystrophy type 2 (GCD2) is a hereditary disease that features granular and lattice stromal deposits in the cornea. There are homozygotes and heterozygotes and the opacities are exacerbated by corneal trauma or surgery, such as laser in situ keratomileusis (LASIK). As there is individual variability in GCD2 phenotypes, we investigated various corneal features of GCD2 patients in their twenties, the main age group for refractive surgery.Methods: From genetically confirmed GCD2 patients who had an R124H mutation of the transforming growth factor β induced (<i>TGFBI

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Szatkowska, Iwona, Wilhelm Grzesiak, Magdalena Jędrzejczak, Andrzej Dybus, Daniel Zaborski, and Dorota Jankowiak. "An analysis of CYP19, CYP21 and ER genotypes in Polish Holstein-Friesian cows with regard to the selected reproductive traits." Acta Veterinaria Brno 80, no. 1 (2011): 65–71. http://dx.doi.org/10.2754/avb201180010065.

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The aim of this study was to relate polymorphic variants of CYP19, CYP21 and ER1 genes to reproductive traits in 472 Polish Holstein-Friesian cows. High frequencies of one of the homozygous genotypes were found. The ER1/SnaBIAA homozygotes were not identified. In the first and third lactation, an average calving-to-conception interval (CLVC) in cows of ER1/SnaBIGG genotype was significantly shorter (P ≤ 0.05) than in heterozygous cows. In the cows of ER1/BglIGG genotype, significantly shorter CLVC (P ≤ 0.05) was observed compared to heterozygotes in the first lactation, whereas in the third la

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Jones, G., S. Zammit, N. Norton, M. L. Hamshere, S. J. Jones, C. Milham, R. D. Sanders, et al. "Aggressive behaviour in patients with schizophrenia is associated with catechol-O-methyltransferase genotype." British Journal of Psychiatry 179, no. 4 (October 2001): 351–55. http://dx.doi.org/10.1192/bjp.179.4.351.

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BackgroundEvidence exists for an association between aggression and schizophrenia. Although the aetiology of aggression is multifactorial, three studies have reported associations between polymorphisms of the catechol-O-methyltransferase (COMT) gene and aggression in schizophrenia.AimsTo replicate these findings in a larger sample using the Overt Aggression Scale (OAS).MethodA sample of 180 people with DSM–IV schizophrenia were rated for aggression using the OAS. Kruskal–Wallis and contingency table analyses were applied to the OAS results.ResultsThe high-activity homozygotes showed significan

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Herrmann, Mark G., Jacob D. Durtschi, Carl T. Wittwer, and Karl V. Voelkerding. "Expanded Instrument Comparison of Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping." Clinical Chemistry 53, no. 8 (August 1, 2007): 1544–48. http://dx.doi.org/10.1373/clinchem.2007.088120.

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Abstract Background: Additional instruments have become available since instruments for DNA melting analysis of PCR products for genotyping and mutation scanning were compared. We assessed the performance of these new instruments for genotyping and scanning for mutations. Methods: A 110-bp fragment of the β-globin gene including the sickle cell anemia locus (HBB c. 20A&gt;T) was amplified by PCR in the presence of LCGreen Plus or SYBR Green I. Amplicons of 4 different genotypes [wild-type, homozygous, and heterozygous HBB c. 20A&gt;T and double-heterozygote HBB c. (9C&gt;T; 20A&amp

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Rosendaal, Frits, Marco Cattaneo, Maurizio Margaglione, Valerio De Stefano, Tony Cumming, Valder Arruda, Andreas Hillarp, Jean-Luc Reny, and Joseph Emmerich. "Combined Effect of Factor V Leiden and Prothrombin 20210A on the Risk of Venous Thromboembolism." Thrombosis and Haemostasis 86, no. 09 (2001): 809–16. http://dx.doi.org/10.1055/s-0037-1616136.

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SummaryFactor V Leiden and factor II G20210A mutations are two frequent genetic risk factors involved in venous thromboembolism (VTE). The goal of this pooled analysis of 8 case-control studies, comprising a total of 2310 cases and 3204 controls, was to precisely estimate the risk of VTE in patients bearing both mutations (double heterozygotes). Odds ratios for VTE were 4.9 (95% CI; 4.1-5.9) for the factor V Leiden and 3.8 (3.0-4.9) for the factor II G20210A mutation. Fifty-one cases (2.2%) and none of the controls were double heterozygotes. The odds ratio for venous thrombosis in double heter

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Shanmugam, V., K. W. Sell, and B. K. Saha. "Mistyping ACE heterozygotes." Genome Research 3, no. 2 (October 1, 1993): 120–21. http://dx.doi.org/10.1101/gr.3.2.120.

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Powell, Lawrie W., and Elizabeth C. Jazwinska. "Hemochromatosis in Heterozygotes." New England Journal of Medicine 335, no. 24 (December 12, 1996): 1837–39. http://dx.doi.org/10.1056/nejm199612123352410.

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Swift, Michael. "Manifestations in heterozygotes." American Journal of Medical Genetics 39, no. 4 (June 15, 1991): 501. http://dx.doi.org/10.1002/ajmg.1320390431.

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Katoh, Masaya, and David W. Foltz. "Biochemical evidence for the existence of a null allele at the leucine aminopeptidase-2 (Lap-2) locus in the oyster Crassostrea virginica (Gmelin)." Genome 32, no. 4 (August 1, 1989): 687–90. http://dx.doi.org/10.1139/g89-499.

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The existence of a null activity allele at the leucine aminopeptidase-2 (Lap-2) locus in the oyster Crassostrea virginica (Gmelin) was previously inferred from anomalous segregation patterns observed in offspring from pair crosses, and from the occurrence of individuals lacking Lap-2 bands on gels (presumed null homozygotes). The present research was done to determine whether leucine aminopeptidase specific activity was significantly reduced in oysters presumed from breeding experiments to be heterozygous for a Lap-2 null allele. Approximately thirty 4-month-old oysters from each of two crosse

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Zhang, Jianning, Daniel G. Fuster, Mary Ann Cameron, Henry Quiñones, Carolyn Griffith, Xiao-Song Xie, and Orson W. Moe. "Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit." American Journal of Physiology-Renal Physiology 307, no. 9 (November 1, 2014): F1063—F1071. http://dx.doi.org/10.1152/ajprenal.00408.2014.

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Congenital distal renal tubular acidosis (RTA) from mutations of the B1 subunit of V-ATPase is considered an autosomal recessive disease. We analyzed a distal RTA kindred with a truncation mutation of B1 (p.Phe468fsX487) previously shown to have failure of assembly into the V1domain of V-ATPase. All heterozygous carriers in this kindred have normal plasma HCO3−concentrations and thus evaded the diagnosis of RTA. However, inappropriately high urine pH, hypocitraturia, and hypercalciuria were present either individually or in combination in the heterozygotes at baseline. Two of the heterozygotes

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Gundry, Cameron N., Joshua G. Vandersteen, Gudrun H. Reed, Robert J. Pryor, Jian Chen, and Carl T. Wittwer. "Amplicon Melting Analysis with Labeled Primers: A Closed-Tube Method for Differentiating Homozygotes and Heterozygotes." Clinical Chemistry 49, no. 3 (March 1, 2003): 396–406. http://dx.doi.org/10.1373/49.3.396.

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Abstract Background: Common methods for identification of DNA sequence variants use gel electrophoresis or column separation after PCR. Methods: We developed a method for sequence variant analysis requiring only PCR and amplicon melting analysis. One of the PCR primers was fluorescently labeled. After PCR, the melting transition of the amplicon was monitored by high-resolution melting analysis. Different homozygotes were distinguished by amplicon melting temperature (Tm). Heterozygotes were identified by low-temperature melting of heteroduplexes, which broadened the overall melting transition.

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Bombardier, Chris, Linda J. Jacobson, Marilyn J. Manco-Johnson, and Neil A. Goldenberg. "Evidence of Increased Plasma Coagulative Capacity by CloFAL Assay among Pediatric Factor V Leiden and Prothrombin G20210A Heterozygotes with, Versus without, a First-or Second-Degree Family History of Venous Thromboembolism." Blood 112, no. 11 (November 16, 2008): 5345. http://dx.doi.org/10.1182/blood.v112.11.5345.5345.

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Abstract BACKGROUND: The factor V (FV) Leiden and prothrombin (PT) G20210A polymorphisms in heterozygous state are present in 5% and 1–2% of Caucasians, respectively, and confer approximately 5-fold and 2-fold increases in the risk of incident venous thromboembolism (VTE). While some families who carry these genetic thrombophilia traits exhibit a prothrombotic phenotype, others have no (or only a limited) history of VTE. The ability to discern which individuals with personal and familial carriage of these genetic thrombophilias possess a clinically meaningful increase in VTE risk remains elusi

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Webb, A. J., P. Imlah, and A. E. Carden. "Succinylcholine and halothane as a field test for the heterozygote at the halothane locus in pigs." Animal Science 42, no. 2 (April 1986): 275–79. http://dx.doi.org/10.1017/s0003356100017992.

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ABSTRACTReaction to the muscle relaxant succinylcholine was investigated as a possible method of distinguishing the heterozygote from the normal homozygote at the halothane locus. Totals of 54 assumed heterozygotes and 67 assumed homozygotes received intravenous succinylcholine during halothane anaesthesia at 6 to 10 weeks of age. Three separate measures of the duration and severity of the muscular reaction to succinylcholine were all significantly increased in heterozygotes compared with homozygotes. The genotypic difference for one of the three reaction traits was significantly influenced by

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Simioni, Paolo, Elisabetta Castoldi, Barbara Lunghi, Daniela Tormene, Jan Rosing, and Francesco Bernardi. "An underestimated combination of opposites resulting in enhanced thrombotic tendency." Blood 106, no. 7 (October 1, 2005): 2363–65. http://dx.doi.org/10.1182/blood-2005-04-1461.

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Abstract Heterozygous carriers of factor V (FV) Leiden who also carry FV deficiency often develop venous thromboembolism, but the thrombosis risk associated with this rare condition (pseudohomozygous activated protein C resistance) is still unclear. The thrombosis risk of genetically characterized pseudohomozygotes (n = 6) was compared with that of FV Leiden heterozygotes (n = 683) and homozygotes (n = 50) recruited within a large cohort study on familial thrombophilia. Both thrombin generation and Kaplan-Meier thrombosis-free survival analyses were performed in different FV genotype groups. F

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32

Prence, Elizabeth M., Cheryl A. Jerome, Barbara L. Triggs-Raine, and Marvin R. Natwicz. "Heterozygosity for Tay-Sachs and Sandhoff Diseases among Massachusetts Residents with French Canadian Background." Journal of Medical Screening 4, no. 3 (September 1997): 133–36. http://dx.doi.org/10.1177/096914139700400304.

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Objectives— The frequency of Tay-Sachs disease (TSD) heterozygosity is increased among French Canadians in eastern Quebec. A large proportion of the New England population has French Canadian heritage; thus, it is important to determine if they too are at increased risk for TSD heterozygosity. This prospective study was designed to assess the TSD heterozygote frequency among people with French Canadian background living in Massachusetts. A simultaneous screen for heterozygosity for Sandhoff disease, a related genetic disorder, was also undertaken. Methods— 1260 non-pregnant subjects of French

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33

Phillips, R. B., M. P. Matsuoka, W. W. Smoker, and A. J. Gharrett. "Inheritance of a chromosomal polymorphism in odd-year pink salmon from southeastern Alaska." Genome 42, no. 5 (October 1, 1999): 816–20. http://dx.doi.org/10.1139/g99-010.

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In previous work we found a high frequency of heterozygotes for a fission translocation involving the seventh chromosome pair in odd-year populations of pink salmon (Oncorhynchus gorbuscha) sampled from Washington State to south central Alaska. The populations from southeastern Alaska and northern British Columbia had high frequencies of heterozygotes for a second rearrangement of this same chromosome pair. In these fish one fission product, the larger acrocentric chromosome bearing the nucleolar organizer region (NOR), has undergone an inversion to produce a submetacentric chromosome. In this

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34

Chiang, Y. Jeffrey, Michael T. Hemann, Karen S. Hathcock, Lino Tessarollo, Lionel Feigenbaum, William C. Hahn, and Richard J. Hodes. "Expression of Telomerase RNA Template, but Not Telomerase Reverse Transcriptase, Is Limiting for Telomere Length Maintenance In Vivo." Molecular and Cellular Biology 24, no. 16 (August 15, 2004): 7024–31. http://dx.doi.org/10.1128/mcb.24.16.7024-7031.2004.

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ABSTRACT Telomerase consists of two essential components, the telomerase RNA template (TR) and telomerase reverse transcriptase (TERT). The haplo-insufficiency of TR was recently shown to cause one form of human dyskeratosis congenita, an inherited disease marked by abnormal telomere shortening. Consistent with this finding, we recently reported that mice heterozygous for inactivation of mouse TR exhibit a similar haplo-insufficiency and are deficient in the ability to elongate telomeres in vivo. To further assess the genetic regulation of telomerase activity, we have compared the abilities of

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35

Fairbrother, J. E., and A. R. Beaumont. "Heterozygote deficiencies in a cohort of newly settled Mytilus edulis spat." Journal of the Marine Biological Association of the United Kingdom 73, no. 3 (August 1993): 647–53. http://dx.doi.org/10.1017/s002531540003318x.

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Abstract (sommario):

A cohort of newly settled Mytilus edulis (L.) (Mollusca: Bivalvia) spat (mean shell length 530 µm) was collected from red filamentous algae at a site on the North Wales coast. After a period of growth in the laboratory, cellulose acetate and starch gel electrophoresis were used to investigate genotype frequencies at the Gpi, Odh, Lap, Pgm, Idh and Mpi loci. Individual testing of each locus, using the X2 test revealed significant deficiencies of heterozygotes at the Pgm, Mpi and Idh loci. However, further testing using a sequential Bonf erroni test, designed to assess the probability of observi

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36

Dooner, H. K., and J. L. Kermicle. "THE TRANSPOSABLE ELEMENT Ds AFFECTS THE PATTERN OF INTRAGENIC RECOMBINATION AT THE bz AND R LOCI IN MAIZE." Genetics 113, no. 1 (May 1, 1986): 135–43. http://dx.doi.org/10.1093/genetics/113.1.135.

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ABSTRACT Insertion of the transposable element Ds into either the bz or R locus affects intragenic recombination in various ways. We have examined here one aspect of this problem; namely, the distribution of flanking markers among intragenic recombinations produced by different types of heterozygotes carrying Ds insertion mutations. Heteroallelic combinations of a Ds insertion mutation and a mutation borne on a structurally normal chromosome generate a majority of intragenic recombinants of a crossover type. In contrast to this, most intragenic recombinants obtained from heterozygotes between

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37

Motojima, Masaru, Sho Tanimoto, Masato Ohtsuka, Taiji Matsusaka, Tsutomu Kume, and Koichiro Abe. "Characterization of Kidney and Skeleton Phenotypes of Mice Double Heterozygous for Foxc1 and Foxc2." Cells Tissues Organs 201, no. 5 (2016): 380–89. http://dx.doi.org/10.1159/000445027.

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Abstract (sommario):

Foxc1 and Foxc2 play key roles in mouse development. Foxc1 mutant mice develop duplex kidneys with double ureters, and lack calvarial and sternal bones. Foxc2 null mice have been reported to have glomerular abnormalities in the kidney and axial skeletal anomalies. Expression patterns of Foxc1 and Foxc2 overlap extensively and are believed to have interactive roles. However, cooperative roles of these factors in glomerular and skeletal development are unknown. Therefore, we examined the kidneys and skeleton of mice that were double heterozygous for Foxc1 and Foxc2. Double heterozygotes were gen

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38

Torpy, David J., Anthony W. Bachmann, Jeffrey E. Grice, Stephen P. Fitzgerald, Patrick J. Phillips, Judith A. Whitworth, and Richard V. Jackson. "Familial Corticosteroid-Binding Globulin Deficiency Due to a Novel Null Mutation: Association with Fatigue and Relative Hypotension." Journal of Clinical Endocrinology & Metabolism 86, no. 8 (August 1, 2001): 3692–700. http://dx.doi.org/10.1210/jcem.86.8.7724.

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Abstract (sommario):

Corticosteroid-binding globulin is a 383-amino acid glycoprotein that serves a hormone transport role and may have functions related to the stress response and inflammation. We describe a 39-member Italian-Australian family with a novel complete loss of function (null) mutation of the corticosteroid-binding globulin gene. A second, previously described, mutation (Lyon) segregated independently in the same kindred. The novel exon 2 mutation led to a premature termination codon corresponding to residue −12 of the procorticosteroid-binding globulin molecule (c.121G→A). Among 32 family members the

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39

Alcalay, R. N., A. Siderowf, R. Ottman, E. Caccappolo, H. Mejia-Santana, M. X. Tang, L. Rosado, et al. "Olfaction in Parkin heterozygotes and compound heterozygotes: The CORE-PD study." Neurology 76, no. 4 (December 29, 2010): 319–26. http://dx.doi.org/10.1212/wnl.0b013e31820882aa.

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40

Ying, Ying, Xiao-Ming Liu, Amy Marble, Kirstie A. Lawson, and Guang-Quan Zhao. "Requirement of Bmp8b for the Generation of Primordial Germ Cells in the Mouse." Molecular Endocrinology 14, no. 7 (July 1, 2000): 1053–63. http://dx.doi.org/10.1210/mend.14.7.0479.

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Abstract (sommario):

Abstract In the mouse embryo, the generation of primordial germ cells (PGCs) from the epiblast requires a bone morphogenetic protein-4 (BMP4) signal from the adjacent extraembryonic ectoderm. In this study, we report that Bmp8b, a member of the Gbb-60A class of the BMP superfamily, is expressed in the extraembryonic ectoderm in pregastrula and gastrula stage mouse embryos and is required for PGC generation. A mutation in Bmp8b on a mixed genetic background results in the absence of PGCs in 43% null mutant embryos and severe reduction in PGC number in the remainder. The heterozygotes are unaffe

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41

Kropp, Peter A., Jennifer C. Dunn, Bethany A. Carboneau, Doris A. Stoffers, and Maureen Gannon. "Cooperative function of Pdx1 and Oc1 in multipotent pancreatic progenitors impacts postnatal islet maturation and adaptability." American Journal of Physiology-Endocrinology and Metabolism 314, no. 4 (April 1, 2018): E308—E321. http://dx.doi.org/10.1152/ajpendo.00260.2017.

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Abstract (sommario):

The transcription factors pancreatic and duodenal homeobox 1 (Pdx1) and onecut1 (Oc1) are coexpressed in multipotent pancreatic progenitors (MPCs), but their expression patterns diverge in hormone-expressing cells, with Oc1 expression being extinguished in the endocrine lineage and Pdx1 being maintained at high levels in β-cells. We previously demonstrated that cooperative function of these two factors in MPCs is necessary for proper specification and differentiation of pancreatic endocrine cells. In those studies, we observed a persistent decrease in expression of the β-cell maturity factor M

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42

Kotchetkoff, Elaine Cristina de Almeida, Fabíola Isabel Suano de Souza, Fernando Luiz Affonso Fonseca, Sonia Hix, Sergio Aron Ajzen, David Carlos Shigueoka, Beatriz Tavares Costa Carvalho, and Roseli Oselka Saccardo Sarni. "Assessing cardiovascular risk in ATM heterozygotes." Revista da Associação Médica Brasileira 64, no. 2 (February 2018): 148–53. http://dx.doi.org/10.1590/1806-9282.64.02.148.

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Abstract (sommario):

Summary Objective: To evaluate the carotid intima-media complex (CIMC) thickness and lipid metabolism biomarkers associated with cardiovascular risk (CR) in parents of patients with ataxia-telangiectasia and verify an association with gender. Method: A cross-sectional and controlled study with 29 ATM heterozygotes and 14 healthy controls. Biochemical tests and CIMC thickness measurement were performed. Results: The mean CIMC measurement in heterozygous ATM was 0.72 ± 0.1 mm (minimum: 0.5 mm and maximum: 1.0 mm). Noticed high percentage of amounts above 75 percentile compared to the population

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43

Marx, Stephen J., and Ninet Sinaii. "Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene." Journal of Clinical Endocrinology & Metabolism 105, no. 4 (November 28, 2019): 1061–78. http://dx.doi.org/10.1210/clinem/dgz233.

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Abstract (sommario):

Abstract Context Neonatal severe hyperparathyroidism (NSHPT) is rare and potentially lethal. It is usually from homozygous or heterozygous germline-inactivating CASR variant(s). NSHPT shows a puzzling range of serum calcium and parathyroid hormone (PTH) levels. Optimal therapy is unclear. Evidence acquisition We categorized genotype/phenotype pairings related to CASRs. For the 2 pairings in NSHPT, each of 57 cases of neonatal severe hyperparathyroidism required calcium, PTH, upper normal PTH, and dosage of a germline pathogenic CASR variant. Evidence synthesis Homozygous and heterozygous NSHPT

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44

Gallant, E. M., J. R. Mickelson, B. D. Roggow, S. K. Donaldson, C. F. Louis, and W. E. Rempel. "Halothane-sensitivity gene and muscle contractile properties in malignant hyperthermia." American Journal of Physiology-Cell Physiology 257, no. 4 (October 1, 1989): C781—C786. http://dx.doi.org/10.1152/ajpcell.1989.257.4.c781.

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Abstract (sommario):

Malignant hyperthermia (MH) results from the presence of the halothane-sensitivity gene and is characterized by abnormalities in muscle function. Populations of genetically defined pigs were used to determine the in vivo and in vitro expression of this gene in both the homozygous and the heterozygous condition. On exposure to halothane, isolated muscle bundles from the homozygous halothane-sensitive pigs exhibited decreased tetanus tension and increased tetanus half-relaxation time and contracture and were clearly distinguished from homozygous normal muscles. The heterozygous and homozygous no

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45

Felice, Alexander, Joseph Borg, Wilma Cassar, Ruth Galdies, Monica Pizzuto, Maryrose Caruana, and Christian Scerri. "Hb F Malta I in Association with Hb F Sardinia (AyT) and Hb Valletta in Heterozygotes: Quantification of the Six Globins Suggests Developmental Control of the XMN-I Site and Interplay with the (AT)xTy Sequence in Connection with Globin Gene Switching." Blood 108, no. 11 (November 16, 2006): 3830. http://dx.doi.org/10.1182/blood.v108.11.3830.3830.

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Abstract (sommario):

Abstract Although the precise biochemical mechanisms of globin gene switching remain elusive, considerable insight is gained by in vivo expression profiling through quantification of the hemoglobin / globin phenotype of informative heterozygosities and homozygosities / compound heterozygosities in the context of specific regulatory DNA sequence diversity such as the XMN-I or the [(AT)xTy] sequence polymorphisms. The quantification of normal and abnormal globins of Hb F Malta-I (or a2b2, 117(G19)His>Arg) heterozygotes which are in tight linkage disequilibrium with Hb Valletta (or a2b2 287(f3

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46

Lozano, R., C. Ruiz Rejón, and M. Ruiz Rejón. "Interchange polymorphism in natural populations of Allium paniculatum L. (Liliaceae): nature, frequency, effects, and mechanism of maintenance." Canadian Journal of Genetics and Cytology 28, no. 3 (June 1, 1986): 348–57. http://dx.doi.org/10.1139/g86-052.

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Abstract (sommario):

A reciprocal translocation was found with a high frequency (average 44.44%) in four natural populations of Allium paniculatum L. (Liliaceae) from the South of Spain. The chromosomes involved are 1 and 7. The translocation is reciprocal and unequal. Chiasma frequency in the chromosomes not involved in the interchange is not affected, but chiasma frequency is decreased in the translocated chromosomes in the heterozygotes. As a satellite chromosome is involved in the interchange, the nucleolus is associated with the quadrivalent and the pattern of nucleolus formation is changed in heterozygotes,

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47

West, John D., and Jean H. Flockhart. "Non-additive inheritance of glucose phosphate isomerase activity in mice heterozygous at the Gpi-1s structural locus." Genetical Research 54, no. 1 (August 1989): 27–36. http://dx.doi.org/10.1017/s0016672300028342.

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Abstract (sommario):

SummaryThe activity of blood glucose phosphate isomerase (GPI-1) in mice heterozygous for various alleles at the Gpi-1s structural locus (heterozygotes a/b, a/c and b/c) was significantly higher than expected, on the basis of additive inheritance, from the levels in parental homozygotes. Moreover, the GPI-1 activity was higher in a/b heterozygotes than in either parent (heterosis). Studies of heat stability with kidney homogenates revealed that the relative stabilities of GPI-1 dimers was AA > AB > BB > AC ≥ BC > CC. Differences in dimer stabilities in vivo would affect the total G

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48

Pittschieler, Klaus. "Heterozygotes and liver involvement." Acta Paediatrica 83, s393 (February 1994): 21–23. http://dx.doi.org/10.1111/j.1651-2227.1994.tb13202.x.

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49

Mitchell, SC. "Trimethylaminuria: susceptibility of heterozygotes." Lancet 354, no. 9196 (December 1999): 2164–65. http://dx.doi.org/10.1016/s0140-6736(05)77067-7.

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50

Dechant, Michael, Thomas Poellot, Ulrich Kunzendorf та Thomas Valerius. "Heterogeneous Expression of the 158V and 158F Alleles in FcγRIIIA Heterozygous Donors." Blood 104, № 11 (16 листопада 2004): 1362. http://dx.doi.org/10.1182/blood.v104.11.1362.1362.

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Abstract (sommario):

Abstract Recent clinical studies demonstrated that a bi-allelic polymorphism in the human FCGRIIIA gene critically determines the clinical outcome of rituximab therapy in certain hematologic malignancies and in autoimmune diseases. Thus, patients homozygous for the 158V allele of the FcγRIIIa receptor demonstrated significantly better response rates to rituximab therapy compared to homozygous 158F donors. However, confliciting data were reported for heterozygous patients - which account for approximately 45 % of the investigated population. Furthermore, most of the in vitro reports about funct

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