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Artykuły w czasopismach na temat „Compound heterozygotes”

Autor: Grafiati

Data publikacji: 2 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

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 (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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2

Ng, Kevin, Erron W. Titus, Krystien V. Lieve, et al. "An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2 -Catecholaminergic Polymorphic Ventricular Tachycardia." Circulation 142, no. 10 (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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3

Ho, PJ, J. Rochette, CA Fisher, et al. "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 (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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4

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 (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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5

Yazdanyar, Shiva, Maren Weischer, and Børge G. Nordestgaard. "Genotyping for NOD2 Genetic Variants and Crohn Disease: a Metaanalysis." Clinical Chemistry 55, no. 11 (2009): 1950–57. http://dx.doi.org/10.1373/clinchem.2009.127126.

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Abstract Background: Arg702Trp, Gly908Arg, and Leu1007fsinsC variants of the NOD2 gene (nucleotide-binding oligomerization domain containing 2; alias, CARD15) influence the risk of Crohn disease. Methods: We conducted a systematic review to examine whether Arg702Trp, Gly908Arg, and Leu1007fsinsC are equally important risk factors for Crohn disease. In addition, we used studies for which combined information from all genotypes was available to compare risks in simple heterozygotes, compound heterozygotes, and homozygotes. PubMed, EMBASE, and Web of Science were searched. Seventy-five articles (

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6

Rossi, Enrico, John K. Olynyk, Digby J. Cullen, et al. "Compound Heterozygous Hemochromatosis Genotype Predicts Increased Iron and Erythrocyte Indices in Women." Clinical Chemistry 46, no. 2 (2000): 162–66. http://dx.doi.org/10.1093/clinchem/46.2.162.

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Abstract Background: Women who inherit heterozygosity for the C282Y mutation of the HFE gene may have increased serum iron indices and hemoglobin and are less likely to develop iron deficiency compared with women with the wild-type genotype. Methods: We performed a cross-sectional analysis of 497 women 20–44 years of age and 830 women &gt;51 years of age drawn from the Busselton (Australia) population study to assess the effects of the HFE genotype on serum iron and hematology indices. Results: Heterozygosity for the C282Y mutation occurred in 13.8% of the study population, comprising 11.8

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7

Alcalay, R. N., A. Siderowf, R. Ottman, et al. "Olfaction in Parkin heterozygotes and compound heterozygotes: The CORE-PD study." Neurology 76, no. 4 (2010): 319–26. http://dx.doi.org/10.1212/wnl.0b013e31820882aa.

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8

Felice, Alexander, Joseph Borg, Wilma Cassar, et al. "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 (2006): 3830. http://dx.doi.org/10.1182/blood.v108.11.3830.3830.

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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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9

Suh, Ji Hyung, Ik Hee Ryu, Jin Pyo Hong, et al. "Phenotypes of Granular Corneal Dystrophy Type 2 among Koreans in Their Twenties." Journal of the Korean Ophthalmological Society 63, no. 12 (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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10

Di Taranto, Maria Donata, Carola Giacobbe, Alessio Buonaiuto, et al. "A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia." Journal of Clinical Medicine 9, no. 1 (2020): 219. http://dx.doi.org/10.3390/jcm9010219.

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Homozygous familial hypercholesterolemia (HoFH), the severest form of familial hypercholesterolemia (FH), is characterized by very high LDL-cholesterol levels and a high frequency of coronary heart disease. The disease is caused by the presence of either a pathogenic variant at homozygous status or of two pathogenic variants at compound heterozygous status in the LDLR, APOB, PCSK9 genes. We retrospectively analyzed data of 23 HoFH patients (four children and 19 adults) identified during the genetic screening of 724 FH patients. Genetic screening was performed by sequencing FH causative genes a

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11

Secondes, Eriza S., Daniel F. Wallace, Gautam Rishi, et al. "Increased Allele Frequency of GNPAT p.D519G in Compound HFE p.C282Y/p.H63D Heterozygotes with Elevated Serum Ferritin Levels." Blood 134, Supplement_1 (2019): 4807. http://dx.doi.org/10.1182/blood-2019-128240.

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In hemochromatosis, iron overload is due to increased intestinal iron absorption attributable to mutations in several genes involved in the regulation of iron absorption and metabolism. The most common type of hemochromatosis is caused by mutations in the HFE gene, and homozygosity for the HFE p.C282Y mutation is associated with a risk of iron overload. Approximately 1:200 people of Caucasian origin are homozygous for p.C282Y, but only a minority of p.C282Y homozygotes develop significant iron overload. This is attributed in part to the presence of putative genetic modifiers of iron absorption

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12

Schöniger-Hekele, M., F. Wrba, E. Penner, Ch Müller, and P. Ferenci. "Hepatic pathology in C282Y/H63D compound heterozygotes." Journal of Hepatology 32 (2000): 133. http://dx.doi.org/10.1016/s0168-8278(00)80840-5.

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13

Torpy, David J., Anthony W. Bachmann, Jeffrey E. Grice, et al. "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 (2001): 3692–700. http://dx.doi.org/10.1210/jcem.86.8.7724.

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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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14

Beránek, Martin, M. Drastíková, J. Bureš, and V. Palička. "Preparing Triple-Compound Heterozygous Control Material for Molecular Diagnostics of TPMT Allelic Variants." Folia Biologica 61, no. 3 (2015): 91–96. http://dx.doi.org/10.14712/fb2015061030091.

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The aim of the study is to present a novel approach for preparing triple-compound heterozygous reference material (TCH-RM) for thiopurine S-methyltransferase (TPMT) genotyping by using the gene synthesis technology. The polynucleotide chain we prepared consisted of three wild-type and three mutant segments corresponding to the TPMT 238G>C, 460G>A, and 719A>G polymorphic sites. TCH-RM characteristics were assessed via four methods: reverse hybridization, real-time PCR with hydrolysis probes, real-time PCR followed by subsequent melting temperature analysis, and DNA sequencing. Conseque

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15

Bacanu, Silviu-Alin. "Testing for Modes of Inheritance Involving Compound Heterozygotes." Genetic Epidemiology 37, no. 5 (2013): 522–28. http://dx.doi.org/10.1002/gepi.21732.

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16

Satyagraha, Ari Winasti, Arkasha Sadhewa, Lydia Visita Panggalo, et al. "Genotypes and phenotypes of G6PD deficiency among Indonesian females across diagnostic thresholds of G6PD activity guiding safe primaquine therapy of latent malaria." PLOS Neglected Tropical Diseases 15, no. 7 (2021): e0009610. http://dx.doi.org/10.1371/journal.pntd.0009610.

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Background Plasmodium vivax occurs as a latent infection of liver and a patent infection of red blood cells. Radical cure requires both blood schizontocidal and hypnozoitocidal chemotherapies. The hypnozoitocidal therapies available are primaquine and tafenoquine, 8-aminoquinoline drugs that can provoke threatening acute hemolytic anemia in patients having an X-linked G6PD-deficiency. Heterozygous females may screen as G6PD-normal prior to radical cure and go on to experience hemolytic crisis. Methods & findings This study examined G6PD phenotypes in 1928 female subjects living in malariou

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17

Schuster, Volker, Silvia Seidenspinner, Petra Zeitler, et al. "Compound-Heterozygous Mutations in the Plasminogen Gene Predispose to the Development of Ligneous Conjunctivitis." Blood 93, no. 10 (1999): 3457–66. http://dx.doi.org/10.1182/blood.v93.10.3457.410k03_3457_3466.

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Homozygous type I plasminogen deficiency has been identified as a cause of ligneous conjunctivitis. In this study, 5 additional patients with ligneous conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman, and 1 man) had plasminogen antigen levels of less than 0.4, less than 0.4, and 2.4 mg/dL, respectively, but had plasminogen functional residual activity of 17%, 18%, and 17%, respectively. These subjects were compound-heterozygotes for different missense mutations in the plasminogen gene: Lys19 → Glu/Arg513 → His, Lys19 → Glu/Arg216 → His, and Lys19 → Glu/Leu128 → Pro

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18

Alpert, Norman R., Saidi A. Mohiddin, Dorothy Tripodi, et al. "Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations." American Journal of Physiology-Heart and Circulatory Physiology 288, no. 3 (2005): H1097—H1102. http://dx.doi.org/10.1152/ajpheart.00650.2004.

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Autosomal dominant familial hypertrophic cardiomyopathy (FHC) has variable penetrance and phenotype. Heterozygous mutations in MYH7 encoding β-myosin heavy chain are the most common causes of FHC, and we proposed that “enhanced” mutant actin-myosin function is the causative molecular abnormality. We have studied individuals from families in which members have two, one, or no mutant MYH7 alleles to examine for dose effects. In one family, a member homozygous for Lys207Gln had cardiomyopathy complicated by left ventricular dilatation, systolic impairment, atrial fibrillation, and defibrillator i

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19

Chaubal, Gaurav, Amith Kumar Pakkala, Aditya J. Nanavati, et al. "Compound Heterozygous Familial Hypercholesterolemia in a Child: Successfully Treated by Liver Transplant from Heterozygous Living Donor." Indian Pediatrics Case Reports 3, no. 4 (2023): 220–24. http://dx.doi.org/10.4103/ipcares.ipcares_29_23.

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Background: Familial hypercholesterolemia (FH), mostly inherited as an autosomal dominant disease, is characterized by decreased low-density lipoprotein cholesterol (LDL-C) clearance from the plasma, due to mutation in the LDL receptor (LDL-R). Untreated or treatment resistant cases can have accelerated atherosclerosis leading to cardiovascular deaths. There are very few reports of liver transplant in children with refractory FH. Clinical Description: A 9-year-old girl was having tendinous xanthomas for last 18 months, which remained undiagnosed until she developed early onset acute coronary s

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20

St-Arnaud, René, Martin Pellicelli, Mahmoud Ismail, Alice Arabian, Toghrul Jafarov, and Chengji J. Zhou. "NACA and LRP6 Are Part of a Common Genetic Pathway Necessary for Full Anabolic Response to Intermittent PTH." International Journal of Molecular Sciences 23, no. 2 (2022): 940. http://dx.doi.org/10.3390/ijms23020940.

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PTH induces phosphorylation of the transcriptional coregulator NACA on serine 99 through Gαs and PKA. This leads to nuclear translocation of NACA and expression of the target gene Lrp6, encoding a coreceptor of the PTH receptor (PTH1R) necessary for full anabolic response to intermittent PTH (iPTH) treatment. We hypothesized that maintaining enough functional PTH1R/LRP6 coreceptor complexes at the plasma membrane through NACA-dependent Lrp6 transcription is important to ensure maximal response to iPTH. To test this model, we generated compound heterozygous mice in which one allele each of Naca

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21

Levy, Michal, Lily Bazak, Noa Lev-El, et al. "Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome." Genes 14, no. 10 (2023): 1854. http://dx.doi.org/10.3390/genes14101854.

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Background: Alport syndrome is a hereditary disorder caused by pathogenic variants in the COL4A gene, which can be inherited in an autosomal recessive, dominant, or X-linked pattern. In the Bukharian Jewish population, no founder pathogenic variant has been reported in COL4A4. Methods: The cohort included 38 patients from 22 Bukharian Jewish families with suspected Alport syndrome who were referred the nephrogenetics clinic between 2012 and 2022. The study collected demographic, clinical, and genetic data from electronic medical records, which were used to evaluate the molecular basis of the d

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22

Borg, Kristian, Rolf Stucka, Matthew Locke, et al. "Intragenic deletion ofTRIM32in compound heterozygotes with sarcotubular myopathy/LGMD2H." Human Mutation 30, no. 9 (2009): E831—E844. http://dx.doi.org/10.1002/humu.21063.

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23

Alloisio, N., P. Texier, A. Vallier, et al. "Modulation of Clinical Expression and Band 3 Deficiency in Hereditary Spherocytosis." Blood 90, no. 1 (1997): 414–20. http://dx.doi.org/10.1182/blood.v90.1.414.

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Abstract We present two novel alleles of the anion-exchanger 1 (AE1) gene, allele Coimbra and allele Mondego. Allele Coimbra (V488M, GTG → ATG) affects a conserved position in the putative second ectoplasmic loop of erythrocyte band 3. In 15 simple heterozygotes, it yielded a mild form of hereditary spherocytosis (HS) with band 3 deficiency (−20% ± 2%) and a reduced number of 4,4′-diisothiocyano-1,2-diphenylethane-2,2′-disulfonate (H2DIDS) binding sites (−35%). However, two additional heterozygotes presented with an aggravated HS and a more pronounced reduction of band 3 (−40%) and of H2DIDS b

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Alloisio, N., P. Texier, A. Vallier, et al. "Modulation of Clinical Expression and Band 3 Deficiency in Hereditary Spherocytosis." Blood 90, no. 1 (1997): 414–20. http://dx.doi.org/10.1182/blood.v90.1.414.414_414_420.

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We present two novel alleles of the anion-exchanger 1 (AE1) gene, allele Coimbra and allele Mondego. Allele Coimbra (V488M, GTG → ATG) affects a conserved position in the putative second ectoplasmic loop of erythrocyte band 3. In 15 simple heterozygotes, it yielded a mild form of hereditary spherocytosis (HS) with band 3 deficiency (−20% ± 2%) and a reduced number of 4,4′-diisothiocyano-1,2-diphenylethane-2,2′-disulfonate (H2DIDS) binding sites (−35%). However, two additional heterozygotes presented with an aggravated HS and a more pronounced reduction of band 3 (−40%) and of H2DIDS binding si

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25

Husein, Wanes, Marten, Zimmer, and Naim. "Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency." Nutrients 11, no. 10 (2019): 2290. http://dx.doi.org/10.3390/nu11102290.

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Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disorder of carbohydrate maldigestion and malabsorption caused by mutations in the sucrase-isomaltase (SI) gene. SI, together with maltase-glucoamylase (MGAM), belongs to the enzyme family of disaccharidases required for breakdown of -glycosidic linkages in the small intestine. The effects of homozygote and compound heterozygote inheritance trait of SI mutations in CSID patients have been well described in former studies. Here we propose the inclusion of heterozygote mutation carriers as a new entity in CSID, possibly p

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26

Kenny, Dermot, Ólafur G. Jónsson, Patricia A. Morateck та Robert R. Montgomery. "Naturally Occurring Mutations in Glycoprotein Ibα That Result in Defective Ligand Binding and Synthesis of a Truncated Protein". Blood 92, № 1 (1998): 175–83. http://dx.doi.org/10.1182/blood.v92.1.175.413a36_175_183.

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The platelet GPIb-V-IX complex is the receptor for the initial binding of von Willebrand factor (vWF) mediating platelet adhesion. The complex is composed of four membrane-spanning glycoproteins (GP): GPIbα, GPIbβ, GPIX, and GPV. Bernard-Soulier syndrome results from a qualitative or quantitative defect in one or more components of the platelet membrane GPIb-V-IX complex. We describe the molecular basis of a novel Bernard-Soulier syndrome variant in two siblings in whom GPIbα was not detected on the platelet surface but that was present in a soluble form in plasma. DNA sequence analysis showed

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27

Koziol, James A., Ngoc J. Ho, Vincent J. Felitti, and Ernest Beutler. "Reference Centiles for Serum Ferritin and Percentage of Transferrin Saturation, with Application to Mutations of the HFE Gene." Clinical Chemistry 47, no. 10 (2001): 1804–10. http://dx.doi.org/10.1093/clinchem/47.10.1804.

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Abstract Background: The gene that causes most cases of hereditary hemochromatosis is designated HFE. Individuals with mutations in the HFE gene may have increased serum iron, transferrin saturation, and ferritin concentrations relative to individuals with the wild-type genotype. Methods: We generated reference centiles for percentage of transferrin saturation and serum ferritin concentrations in normal (wild-type), healthy Caucasian adults. We then examined transferrin and ferritin concentrations relative to these centiles in 81 individuals homozygous for the major hemochromatosis mutation C2

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Anastasovska, V., and M. Kocova. "Intron 2 Splice Mutation at CYP21 Gene in Patients with Congenital Adrenal Hyperplasia in the Republic of Macedonia." Balkan Journal of Medical Genetics 13, no. 2 (2010): 27–33. http://dx.doi.org/10.2478/v10034-010-0023-7.

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Intron 2 Splice Mutation at CYP21 Gene in Patients with Congenital Adrenal Hyperplasia in the Republic of MacedoniaCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder. In 90-95% of cases it results from mutations in the gene for 21-hydroxylase (CYP21, also termed CYP21A2 and P450c21). The IVS-II-656 (C/A>G) mutation leaves ~2.0% enzyme activity, and comprises 25% of the classic CYP21 deficiency alleles and 51% of alleles in the salt-wasting form.We performed direct molecular diagnosis of the IVS-II mutation in 41 Macedonian patients with different clinical forms of CAH a

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West, John D., Graham Fisher, John F. Loutit, Michael J. Marshall, Norman W. Nisbet, and V. Hugh Perry. "A new allele of microphthalmia induced in the mouse: microphthalmia - defective iris (midi)." Genetical Research 46, no. 3 (1985): 309–24. http://dx.doi.org/10.1017/s0016672300022801.

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SUMMARYA new allele of microphthalmia (mi) in the mouse was discovered among the progeny of a male that had been treated with the potent mutagen ethylnitrosourea. Homozygotes have white coats, mildly defective bone resorption and small eyes (about 60% of the normal size) with very little pigmentation. The iris and retina are abnormal, there is no vitreous body and iris pigmentation is restricted to a rim around the pupil. No haematopoietic defect was detected. Genetic studies showed that the mutation is linked to lurcher (Lc) on chromosome 6 and crosses with Miwh/ + and mi/ + mice indicate tha

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Poullis, A., SJ Moodie, L. Ang, CJ Finlayson, GE Levin, and JD Maxwell. "Routine transferrin saturation measurement in liver clinic patients increases detection of hereditary haemochromatosis." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 40, no. 5 (2003): 521–27. http://dx.doi.org/10.1258/000456303322326434.

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Background: Hereditary haemochromatosis (HH) is one of the commonest genetic disorders in European populations. Transferrin saturation (TFS) measurement has been advocated as a phenotypic screening test to improve detection. We undertook a prospective study to examine the value of routine TFS measurement in detecting new cases of HH in unselected liver clinic attenders. Methods: Non-fasting TFS was measured in new patients. HH mutations were determined in those with elevated TFS (>45%) and all who underwent liver biopsy. Liver biopsy was performed in 349 patients, including all found to be

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Puro, Jaakko. "Meiotic behaviour of compound chromosomes in tricomplex heterozygotes in Drosophila melanogaster." Genetical Research 46, no. 3 (1985): 287–307. http://dx.doi.org/10.1017/s0016672300022795.

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SUMMARYA tricomplex heterozygote has a synthetic chromosome complement consisting of four pairs of arms of chromosomes 2 and 3 in the form of a compound of two homologous arms (a homocompound) and of three compounds of two nonhomologous arms (heterocompounds), each being homologous to an arm of different compounds. In meiosis, pairing of homologous arms results in the formation of a single and a multiple configuration that are structural equivalents of a univalent and a trivalent. Data are presented indicating that, in a given complement, the pattern of the distribution of three heterocompound

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Sriphrapradang, Chutintorn, Yardena Tenenbaum-Rakover, Mia Weiss, et al. "The Coexistence of a Novel Inactivating Mutant Thyrotropin Receptor Allele with Two Thyroid Peroxidase Mutations: A Genotype-Phenotype Correlation." Journal of Clinical Endocrinology & Metabolism 96, no. 6 (2011): E1001—E1006. http://dx.doi.org/10.1210/jc.2011-0127.

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Context: TSH receptor (TSHR) and thyroid peroxidase (TPO) gene mutations occur independently. This is the first report of their coexistence in the same individuals. Objectives: The objective of the study was to evaluate the genotype-phenotype correlations when mutations in both genes are present alone or together in the same individual. Patients and Methods: Thirty subjects from an extended Arab kindred underwent clinical investigation and molecular studies of the mutant TSHRs. Results: A novel mutant TSHR was identified, involving four nucleotides at three sites on the same allele, c.267G&amp

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Narzi, L., A. Stamato, R. Cresta, et al. "The variable phenotype of (TGJ^Ts or L997F compound heterozygotes." Journal of Cystic Fibrosis 7 (June 2008): S5. http://dx.doi.org/10.1016/s1569-1993(08)60022-3.

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Coss�e, Mireille, Alexandra D�rr, Mich�le Schmitt, et al. "Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes." Annals of Neurology 45, no. 2 (1999): 200–206. http://dx.doi.org/10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u.

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Goel, Neha, Kanika Kapoor, Srilatha Bajaj, and Sumita Saluja. "Compound heterozygous delta beta thalassemia with IVS 1-5 (G>C) mutation presenting as thalassemia major phenotype." International Journal of Contemporary Pediatrics 8, no. 12 (2021): 1993. http://dx.doi.org/10.18203/2349-3291.ijcp20214543.

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Delta beta thalassemia is an unusual variant of thalassemia with elevated level of fetal hemoglobin (HbF). Unlike beta thalassemia, delta beta thalassemia heterozygotes have milder phenotype and homozygotes present as thalassemia intermedia phenotype. We report a 11-month-old male child who presented with severe anemia, and hepatosplenomegaly, thalassemia major phenotype. On evaluation was diagnosed as compound heterozygous for δβ0/β thalassemia with IVS 1-5 (G>C) mutation. This case highlights the importance of genotyping of patients with δβ thalassemia and co-inheritance of δβ thalassemia

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Johnson, F., Janina Longtine, Nils Kucher, Hylton Joffe, Ruliang Xu, and Samuel Goldhaber. "Warfarin dosing and cytochrome P450 2C9 polymorphisms." Thrombosis and Haemostasis 91, no. 06 (2004): 1123–28. http://dx.doi.org/10.1160/th04-02-0083.

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SummaryTwo cytochrome P450 2C9 (CYP2C9) polymorphisms, CYP2C9*2 and *3, metabolize warfarin inefficiently. We assessed the extent to which these polymorphisms explain very low warfarin dose requirements and hemorrhagic complications after excluding non-genetic determinants of warfarin dosing. In this retrospective observational study, 73 patients with stable warfarin doses for ≥1 month and International Normalized Ratios (INR) of 2.0–3.0 were enrolled from our Anticoagulation Clinic. Seventeen patients required ≤2 mg (low-dose), 41 required 4–6 mg (moderate-dose), and 15 required ≥10 mg (high-

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Valiyeva, S. I., S. Kh Kurbanova, I. R. Gaziyev, and D. Yu Ovsyannikov. "Genotypic and phenotypic characteristics of pediatric patients with familial Mediterranean fever (a periodic disease) in one of the Russia regions." Pediatria. Journal named after G.N. Speransky 103, no. 6 (2024): 17–25. https://doi.org/10.24110/0031-403x-2024-103-6-17-25.

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Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) caused by mutations in the MEFV gene. The purpose of this research was to investigate clinical variability and potential genotypic and phenotypic correlations in children with clinically verified FMF and MEFV gene mutations in the City of Moscow, Russia. Materials and methods used: among 188 pediatric patients with suspected monogenic AIDs, MEFV gene mutations were identified in 9 through sequencing. In order to confirm the FMF diagnosis, patients were evaluated according to the modified Tel-Hashomer

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Byrd, DennIs J., Marion Lind, and Johannes Brodehl. "Diagnostic and genetic studies in 43 patients with classic cystinuria." Clinical Chemistry 37, no. 1 (1991): 68–73. http://dx.doi.org/10.1093/clinchem/37.1.68.

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Abstract We present results for laboratory screening and diagnostic tests--cyanide-nitroprusside test, semi-quantitative thin-layer chromatography, and quantitative amino acid column chromatography--of 43 patients with classic cystinuria. We report the efficaciousness of the cyanide-nitroprusside test and of thin-layer chromatography, as compared with quantitative amino acid chromatography, for detecting heterozygotes for type II or III cystinuria. The quantitative results for aminoaciduria in 57 blood relatives in 23 families were used to categorize the index patients with classic cystinuria.

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Gabriková, Dana, Iveta Boroňová, Ivan Bernasovský, et al. "Hemochromatosis gene mutations in the general population of Slovakia." Open Medicine 6, no. 2 (2011): 148–51. http://dx.doi.org/10.2478/s11536-010-0067-9.

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AbstractThis is an epidemiologic study of the Slovak population with the aim of determining the frequencies of three hemochromatosis gene (HFE) variants C282Y, H63D and S65C known to be associated with manifestation of hereditary hemochromatosis and to assess deviations of these frequencies from those reported elsewhere. Mutations were detected in 359 ethnic Slovaks by real-time PCR assay based on TaqMan technology. The allelic frequencies were 4.03% for C282Y, 12.67% for H63D and 1.25% for S65C mutation. We observed 0.28% of C282Y/C282Y homozygotes, 3.34% H63D/H63D homozygotes, 0.84% of C282Y

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Smetanina, N. S., L.-H. Gu, L. Simjanovska та ін. "α-, β-, and y-mRNA Levels in β-Thalassemia; Transcriptional and Translational Differences in Heterozygotes, Homozygotes, and Compound Heterozygotes". Hemoglobin 21, № 1 (1997): 27–39. http://dx.doi.org/10.3109/03630269708997508.

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Furukawa, Yoshiaki, James J. Filiano, and Stephen J. Kish. "Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes forGCH1 mutations." Movement Disorders 19, no. 10 (2004): 1256–58. http://dx.doi.org/10.1002/mds.20194.

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Moens, C. B., B. R. Stanton, L. F. Parada, and J. Rossant. "Defects in heart and lung development in compound heterozygotes for two different targeted mutations at the N-myc locus." Development 119, no. 2 (1993): 485–99. http://dx.doi.org/10.1242/dev.119.2.485.

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Two types of mutant allele, one leaky and one null, have been generated by gene targeting at the N-myc locus in embryonic stem cells and the phenotypes of mice homozygous for these mutations have been described. These mutations have shown that N-myc has a number of functions during development, including a role in branching morphogenesis in the lung, which manifests itself at birth in mice homozygous for the leaky allele, and roles in the development of the mesonephric tubules, the neuroepithelium, the sensory ganglia, the gut and the heart, which become evident at midgestation in embryos homo

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Ichinose, Aya, Hideaki Moteki, Mitsuru Hattori, Shin-ya Nishio, and Shin-ichi Usami. "Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance." Annals of Otology, Rhinology & Laryngology 124, no. 1_suppl (2015): 142S—147S. http://dx.doi.org/10.1177/0003489415575043.

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Objective: We present a patient who was identified with novel mutations in the LRTOMT gene and describe the clinical features of the phenotype including serial audiological findings. Methods: One hundred six Japanese patients with mild to moderate sensorineural hearing loss from unrelated and nonconsanguineous families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss. Results: Compound heterozygotes with a novel frame-shift mutation and a missense m

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Ahmed, Abubaker Y., John McLaughlin, Scott E. Levison, Catherine Fullwood, and Alistair Makin. "Su1450 – Chronic Pancreatitis Associated with Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutations – a Comparison of Heterozygotes and Compound Heterozygotes." Gastroenterology 156, no. 6 (2019): S—555. http://dx.doi.org/10.1016/s0016-5085(19)38278-2.

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Bozzini, Claudia, Natascia Campostrini, Paola Trombini, et al. "Measurement of Urinary Hepcidin Levels by SELDI-TOF-MS in HFE-Hemochromatosis." Blood 110, no. 11 (2007): 2668. http://dx.doi.org/10.1182/blood.v110.11.2668.2668.

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Abstract Introduction: An insufficient production of hepcidin, the master regulator of iron metabolism, is recognized as the key pathogenetic feature of HFE-related hereditary hemochromatosis (HH). There is a growing interest in measuring the hepcidin levels, which may improve diagnosis, prognostic evaluation and clinical management of HH. Nevertheless, few investigative tools are available: an immunodot method for urinary hepcidin developed by a single centre (UCLA), not yet ready for large-scale diffusion, and mass spectrometry (MS) based assays, such as surface-enhanced laser desorption/ion

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Lethagen, Stefan, Christina Isaksson, Charlotta Schaedel, and Lars Holmberg. "Von Willebrand’s Disease caused by Compound Heterozygosity for a Substitution Mutation (T1156M) in the D3 Domain of the Von Willebrand Factor and a Stop Mutation (Q2470X)." Thrombosis and Haemostasis 88, no. 09 (2002): 421–26. http://dx.doi.org/10.1055/s-0037-1613232.

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SummaryHereditary defects of the von Willebrand factor (VWF) gene cause von Willebrand’s disease (VWD) which shows great variability dependent on the nature and location of the mutation. We here describe the characteristics of a substitution of methionine for threonine 1156 in the D3 domain of the VWF, i.e. the domain involved in the intracellular multimerization of pro-VWF dimers. A VWD patient with severe symptoms was a compound heterozygote for the T1156M mutation and a null allele (Q2470X) on the other chromosome. This led to marked reduction of plasma VWF concentration to about 0.05 U/ml

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Van Dorland, Anette Anette, Magnus Mansouri Taleghani, Kenneth Dale Friedman, et al. "Genotype-Phenotype Correlation in Congenital TTP: New Insights from a Multicentre Study with 121 Patients." Blood 132, Supplement 1 (2018): 376. http://dx.doi.org/10.1182/blood-2018-99-112095.

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Abstract Introduction: Congenital thrombotic thrombocytopenic purpura (cTTP) is an autosomal recessive disease characterised by acute episodes of thrombotic microangiopathy. cTTP has a clinically heterogeneous course. Currently there are more than 150 disease-causing ADAMTS13 gene mutations reported, though a genotype-phenotype correlation of this ultra-rare disease remains incompletely understood. Characterization of mutations of the ADAMTS13 gene will be useful for carrier detection and genetic counselling. In 2006, the Hereditary TTP Registry (ClinicalTrials.gov NCT01257269; www.ttpregistry

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Perez Botero, Juliana, Rajiv K. Pruthi, William L. Nichols, Aneel A. Ashrani, and Mrinal M. Patnaik. "von Willebrand disease type1/type 2N compound heterozygotes: diagnostic and management challenges." British Journal of Haematology 176, no. 6 (2016): 994–97. http://dx.doi.org/10.1111/bjh.14028.

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Bergmann, Anke K., Inderneel Sahai, Jill F. Falcone, et al. "Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update." Journal of Pediatrics 155, no. 6 (2009): 888–92. http://dx.doi.org/10.1016/j.jpeds.2009.06.017.

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Gurrin, Lyle C., Nadine A. Bertalli, Gregory W. Dalton, et al. "HFEC282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity." Hepatology 50, no. 1 (2009): 94–101. http://dx.doi.org/10.1002/hep.22972.

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