Ashkenazi Jewish
Mostrando 1-12 de 53 artigos, teses e dissertações.
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1. Familial Dysautonomia: Mechanisms and Models
Abstract Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions. Familial Dysautonomia (FD), also known as HSAN III, is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population. The major features of the disease are
Genet. Mol. Biol.. Publicado em: 04/08/2016
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2. Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil
Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a "bottleneck', which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed ove
Genetics and Molecular Biology. Publicado em: 2012
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3. Prevalência do polimorfismo R72P no gene TP53 E C677T / A1298C do gene da metilenotetrahidrofolato redutase (MTHFR) em mulheres judias ashkenazi de Porto Alegre
A suscetibilidade ao câncer se apresenta com diferentes freqüências em diferentes populações. Dentre muitas das estudadas está a população judaica Ashkenazi, que vêm sendo alvo de muitos trabalhos por apresentarem doenças genéticas em proporção maior do que seria esperado para outra população qualquer. Tal incidência provavelmente advém do f
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2011
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4. Cystic fibrosis mutations delta F508 and G542X in Jewish patients.
We have screened our CF patients for mutations in exons 10 and 11 of the CFTR gene. Two mutations, delta F508 and G542X, have been found in 66 Jewish CF patients. The average frequency of the delta F508 mutation in the Jewish population is 33.8%. The G542X mutation accounts for 13% of the Ashkenazi CF mutations and has been found in three out of seven chromo
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5. Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.
Although the A and B subtypes of Niemann-Pick disease (NPD) both result from the deficient activity of acid sphingomyelinase (ASM; sphingomyelin cholinephosphohydrolase, EC 3.1.4.12) and the lysosomal accumulation of sphingomyelin, they have remarkably distinct phenotypes. Type A disease is a fatal neurodegenerative disorder of infancy, whereas type B diseas
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6. The Founder Mutation MSH2*1906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population
Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by mutations in the mismatch-repair genes. We report here the identification and characterization of a founder mutation in MSH2 in the Ashkenazi Jewish population. We identified a nucleotide substitution, MSH2*1906G→C, which results in a substitution of proline for alanine at codon 636 in the MSH2
The American Society of Human Genetics.
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7. Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
Tay-Sachs disease is an inherited disorder in which the alpha chain of the lysosomal enzyme beta-N-acetylhexosaminidase A bears the mutation. Ashkenazi Jews are found to be carriers for a severe type of Tay-Sachs disease, the classic form, 10 times more frequently than the general population. Ashkenazi Jewish patients with classic Tay-Sachs disease have appe
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8. Hereditary chondrocalcinosis in an Ashkenazi Jewish family.
A hereditary chondrocalcinosis is described for the first time in an Ashkenazi Jewish kindred. Of 34 family members in five generations, seven had medical history suggesting the disease. Five of 25 members of generations III-V had direct evidence for their disease. Characteristically, symptoms started at a fairly early age (third decade) while radiological e
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9. Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes
Haplotypes constructed from Y-chromosome markers were used to trace the paternal origins of the Jewish Diaspora. A set of 18 biallelic polymorphisms was genotyped in 1,371 males from 29 populations, including 7 Jewish (Ashkenazi, Roman, North African, Kurdish, Near Eastern, Yemenite, and Ethiopian) and 16 non-Jewish groups from similar geographic locations.
National Academy of Sciences.
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10. Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.
Types A and B Niemann-Pick disease both result from the deficient activity of the lysosomal hydrolase, acid sphingomyelinase (E.C. 3.1.4.12). Type A Niemann-Pick disease is a severe neurodegenerative disorder of infancy which leads to death by three years of age, whereas Type B disease has a later age at onset, little or no neurologic involvement, and most p
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11. The 28-kb Deletion Spanning D15S63 Is a Polymorphic Variant in the Ashkenazi Jewish Population
D15S63 is one of the loci, on chromosome 15q11-q13, that exhibit parent-of-origin dependent methylation and that is commonly used in the diagnosis of Prader-Willi or Angelman syndromes (PWS/AS). A 28-kb deletion spanning the D15S63 locus was identified in five unrelated patients; in each of them the deletion was inherited from a normal parent. Three of the f
The American Society of Human Genetics.
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12. Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
Tay-Sachs disease is a lethal neurodegenerative disorder caused by deficiency of the lysosomal enzyme beta-hexosaminidase A and inherited in an autosomal recessive fashion; carriers of the disease are 10 times more frequent in the Ashkenazi Jewish community than in the general population. Over 90% of North American Ashkenazi carriers tested have been shown t