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At least 217 records · Page 12Linked to original sources
PubMed1987

Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.

In this study we estimate the frequency of carriers of chronic (type I) Gaucher disease among Ashkenazi Jews by examining the glucocerebrosidase activity in leukocytes in a population of 635 blood donors (441 Ashkenazi) and 57 obligatory heterozygotes. Estimation using the defect in the enzyme glucocerebrosidase (beta-glucosidase) in leukocytes is complicated by the existence of considerable overlap between enzyme activity in normals and in heterozygotes. The assay was carried out with a natural substrate labeled with 14C. Discriminant analysis was used to establish an optimal cutoff point between the obligatory heterozygotes and normal (non-Ashkenazi) subjects for the purpose of estimating frequency of carriers. Applied to the Ashkenazi group, the cutoff point identified 3.17% as heterozygotes. Corrected for errors in classification, the carrier rate was estimated as 4.67%. This figure is in good agreement with a carrier rate of 4% estimated from the number of known cases of clinical Gaucher disease ascertained in Israel.

Ethnicity↗
PubMed1989

Prevalence of familial hypercholesterolemia in Johannesburg Jews.

The prevalence of heterozygous familial hypercholesterolemia was determined in a representative sample of 403 young Jewish men resident in Johannesburg, South Africa. Preliminary screening by measurement of serum total cholesterol demonstrated that 25 of them had levels greater than or equal to 7.5 mmol/l (290 mg/dl). On the basis of subsequent clinical, biochemical, and family studies, 6 men, or about 1 in 67 of the total sample, were considered to be heterozygotes. This very high prevalence, about 7 times greater than that found in other Caucasian populations, is probably related to founder effect. It may help to explain the high frequency of coronary heart disease in Johannesburg Jews.

Adult↗
PubMed1978

Immunoglobulin (Gm) allotypes in a sample of Canadian Ashkenazic Jews.

Gm typing on the serum specimens of 507 Ashkenazic Jews (pre-dominantly of Polish-Russian ancestry) from Toronto, Canada has established the presence of haplotypes Gm3;5, Gm1;21, Gm1,2;21, and Gm1,17;5, and the absence of haplotypes Gm1;13,15,16, Gm1;5,6, and Gm1;5,6,24 which have been found in other Jewish peoples. It is suggested that Ashkenazic populations have lower frequencies of haplotype Gm1,17;5 than non-European Jewish populations, and that some eastern European Jewish populations have acquired the Gm1;13,15,16 haplotype through gene flow from Central Asia. Thus Jewish populations show differences in the Gm system; many of the differences may be in the direction of similarities to neighbouring non-Jewish populations.

Canada↗
PubMed1994

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.

A gene (DYT1) for idiopathic torsion dystonia maps to chromosome 9q34 in Ashkenazi Jewish families with early onset of symptoms. Further, there is linkage disequilibrium between DYT1 and a particular haplotype of alleles at 9q34 loci in this population. This implies that a large proportion of early-onset idiopathic torsion dystonia in Ashkenazi Jews is due to a founder mutation in DYT1. To characterize the phenotypic range of this mutation, we studied 174 Ashkenazi Jewish individuals affected with idiopathic torsion dystonia. We used GT(n) markers on chromosome 9q34 (D9S62, D9S63, and ASS) and classified individuals as having ("carriers"), not having ("noncarriers"), or being ambiguous with respect to a DYT1-associated haplotype. We assessed clinical features and found marked clinical differences between haplotype carriers and noncarriers. There were 90 carriers, 70 noncarriers, and 14 ambiguous individuals. The mean age at onset of symptoms was significantly lower in carriers than in noncarriers (12.5 +/- 8.2 vs 36.5 +/- 16.4 years). In 94% of carriers, symptoms began in a limb (arm or leg equally); rarely the disorder started in the neck (3.3%) or larynx (2.2%). In contrast, the neck, larynx, and other cranial muscles were the sites of onset in 79% of noncarriers; onset in the arms occurred in 21% and onset in the legs never occurred. Limb onset, leg involvement in the course of disease, and age at onset distinguished haplotype carriers from noncarriers with 90% accuracy. In conclusion, there are clinical differences between Ashkenazi Jewish individuals with idiopathic torsion dystonia who do or do not have a unique DYT1 mutation, as determined by a DYT1-associated haplotype of 9q34 alleles.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2002

Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia. Evidence for a founder effect.

BACKGROUND: The authors previously found the I1307K adenomatous polyposis coli (APC) gene variant in 5% of Ashkenazi control participants, in 15.4% of those who had familial colorectal neoplasia, but also in 1.6% of non-Ashkenazi control participants. In this study, they evaluated its use in a screening program for familial colorectal neoplasia and examined for a founder effect. METHODS: Consecutive Ashkenazim with a personal and/or family history of colorectal neoplasia had the DNA test. Markers flanking the APC gene were examined in Ashkenazi and non-Ashkenazi I1307K carriers and noncarriers. RESULTS: Among 718 persons, I1307K occurred in 6.2% of Ashkenazi participants, in 1.5% of non-Ashkenazi control participants (P = 0.02), and in 10.7% of Ashkenazim with familial neoplasia (relative risk, 1.73 [not significant compared with controls]; 95% confidence interval, 0.7-3.2). Colorectal neoplasia was detected in carriers at a younger age (P < 0.05) without excess risk for multiple colorectal neoplasia or noncolorectal neoplasia. I1307K attributable risk for colorectal neoplasia was 0.5-0.6%. Compared with noncarriers, both Ashkenazi and non-Ashkenazi I1307K carriers had similar flanking polymorphic alleles (P < 0.01). CONCLUSIONS: I1307K is a low-penetrance genetic variant that indicates a 1.7 relative risk for neoplasia in carriers who have familial carcinoma, clinically equivalent to obtaining a family history of sporadic colorectal neoplasia and promoting early screening. I1307K is a founder genetic variant in Jews of different ethnic origin, mainly Ashkenazim, but it explains only partially their higher incidence of colorectal carcinoma.

Adult↗
PubMed1992

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews.

Tay-Sachs disease (TSD), a neurodegenerative disorder resulting from a deficiency of the lysosomal enzyme hexosaminidase A (HexA), clusters in Ashkenazic Jews. Population-based screening programs to detect carriers of TSD genes by means of HexA assays have been active since the 1970s. The recent characterization of 3 mutations in the HEXA gene (in exon 7, exon 11, and intron 12), which account for over 90% of HEXA mutations in Ashkenazim, appeared to offer better options for screening and diagnosis. The relative frequencies of the three mutations in Montreal are similar to those reported in four other North American populations. We compared enzyme and DNA analyses to determine specificity and sensitivity of each test when the other was used as the confirmatory procedure. Neither procedure has a sensitivity of 1.0. Maximum sensitivity and specificity were achieved by using both tests together. The findings here are likely to apply to most cases where the variant screened enzyme phenotype can result from more than one mutation.

Canada↗
PubMed1993

Orthodox Jews have a lower incidence of malignant melanoma. A note on the potentially protective role of traditional clothing.

The incidence of malignant melanoma (MM) in orthodox and non-orthodox Jews in Israel during the years 1970-1982 was compared through an assessment of incidence rates in the orthodox and non-orthodox neighborhoods in the city of Jerusalem and by a comparison of the rates in 2 cities on the outskirts of Tel Aviv, one of which has a strongly orthodox population. Within the city of Jerusalem the incidence of MM for the European-American born in the orthodox neighborhoods was significantly lower than in the rest of the city in males, and of borderline significance in females. A similar pattern was seen upon comparison of the orthodox city of Bnei Brak to its neighbor city, Givatayim. The findings are consistent with the role of sun exposure in the etiology of malignant melanoma.

Clothing↗
PubMed1979

Demonic explanations of disease among Moroccan Jews in Israel.

Demonic explanations of disease preserved among Moroccan Jews living in two Israeli moshavim are described and amalyzed. Applied most often to sira, a traditional ailment involving somatic and anxiety symptoms, these explanations are construed as a two-level ordered sequence of steps including elements from both ordinary reality and the demonic world. Traditional patients are usually more aware of the manifest chain of precipitating events centering around emotional consequences of a real trauma. Their rabbi-healers, however, are predisposed towards molding these events into a covert-demonic pattern, the core of which involves a human injuring a jinn and the latter's retaliation. In the explanatory scheme the real-traumatic and the demonic plots are intermingled and this fusion lends the etiological sequence a meaningful rationale as exemplified by two case illustrations. Nevertheless, our analysis renders the demonic substratum quite vulnerable, since the manifest-traumatic plot may be singled out as an autonomous explanation under the impact of the mainstream of modern Israeli society. Reasons for the hitherto tenacious preservation of the demonic component among traditional segments in Israel are presented by comparing the explanatory status of demons and psychoanalytic concepts. Certain vulnerabilities of the denomic explanation which throw doubt upon its long-term survival in modern context are discussed as well.

Adolescent↗
PubMed1991

Creutzfeldt-Jakob disease among Libyan Jews.

The focus of CJD among Jews of Libyan origin has been recognized for two decades, but the reasons underlying it were unknown. Prevailing views suggested transmission from sheep infected with scrapie. However, recent data show that in fact CJD in this ethnic group is a genetically determined disease due to a point mutation on the codon 200 of the prion protein gene. The clinical characteristics of CJD in this group, and particularly the less common periodic activity in the EEG, are reviewed. New findings include peripheral neuropathy of the demyelinating type in two cases, presumably due to involvement of Schwann cells. The pathophysiology of the disease includes, presumably, a focal post-translational modification of the prior protein, (predisposed by the mutation). Later, the disease progresses through cell-to-cell transmission.

Adult↗
PubMed1991

Hunter syndrome in Jews in Israel: further evidence for prenatal selection favoring the Hunter allele.

Among all the Jewish families with Hunter patients in Israel, 10 were Ashkenazi or Moroccan in origin. In those families, there was a paucity of new mutations. In addition, a significant deviation of the segregation ratio between the Hunter gene and the normal allele was demonstrated among the offspring of heterozygous mothers or siblings of affected children in these families. These results confirm and extend our previous observations suggesting selection in favor of the X chromosome carrying the Hunter allele among Ashkenazi and Moroccan Jews.

Alleles↗
PubMed1993

A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.

The majority of hyperphenylalaninemias (HPAs) result from mutations at the gene for phenylalanine hydroxylase (PAH). The broad phenotypic variability of these conditions, ranging from phenylketonuria (PKU) to mild benign HPA, is underlain by a wide spectrum of mutations giving rise to various genotypic combinations. Mutant PAH alleles, labeled by specific polymorphic haplotypes and mutations, are becoming useful markers in human population genetics. We report here a mutant PAH allele found in Jews from Morocco and Tunisia, marked by haplotype 4 and a missense mutation, TCASer-->CCAPro, at codon 349 in exon 10 of the gene. In vitro expression of the mutation showed normal levels of mRNA with virtually no enzymatic activity or protein immunoreactivity, pointing to a highly unstable protein. A homozygote for this mutation showed the most severe ("classical") type of PKU, while compound heterozygotes showed two other types of HPA--"atypical" PKU and "high benign" HPA--illustrating the interplay between different mutations that gives rise to various HPAs.

Base Sequence↗
PubMed1993

G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews.

The Jews of Kurdistan are a small inbred population with a high incidence of beta-thalassaemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Recently, it was reported that the beta-thalassaemia in this population shows an unusual mutational diversity; 13 different mutations were identified, of which 4 had not previously been observed in any other population. In contrast, we now report that the G6PD deficiency, which has the highest known incidence in the world, and which affects about 70% of males, is almost entirely attributable to a single widespread mutation, G6PD Mediterranean.

Female↗
PubMed1985

Hunter syndrome among Ashkenazi Jews in Israel; evidence for prenatal selection favoring the Hunter allele.

Analysis of Ashkenazi families with Hunter patients in Israel demonstrated the complete absence of new mutations among the probands' mothers. Furthermore, in these families a significant deviation of the segregation ratio between the Hunter gene and the normal allele was demonstrated among offspring of heterozygous mothers or siblings of affected children. This may be due to pre- or postzygotic prenatal selection, favoring the X chromosome carrying the Hunter gene among Ashkenazi Jews.

Alleles↗
PubMed1997

The costs and benefits of boundary maintenance: stress, religion and culture among Jews in Britain.

This paper examines stress among two groups of orthodox Jews suggested to differ in the strength of the boundary of their religious group. Comparisons were made between the two groups, and with urban and rural groups studied by other researchers. Proportions of boundary-maintenance events (events whose threat had been caused or exacerbated by Jewishness) and of severe events, and proportions and rates of regular, irregular and disruptive events were examined. Boundary-maintenance events were higher among the more religiously orthodox affiliated group, and among whom religious observance was indeed reported to be higher. It was suggested that conditions of higher boundary maintenance would be associated with higher rates and proportions of regular events and with lower rates and proportions of irregular and disruptive events. Generally, the analyses supported this expectation. Boundary-maintenance events themselves were somewhat less severe, though not less likely to be irregular or disruptive than other events. Depression was shown to be unrelated to boundary-maintenance events and (surprisingly) unrelated to contextual threat when the effects of irregularity-disruption were controlled. Depression was, however, strongly related to irregular and disruptive events. The results are compared with those of related work, and suggest that the general lowering effect of affiliation to a religious group may be partly explained by the effects of boundary maintenance, which involves stress, but of a less depressogenic kind than the disruptive stress associated with conditions of low/no boundary maintenance. The findings have implications for understanding the relations between culture and mental disorder.

Chi-Square Distribution↗
PubMed1995

HTLV-I from Iranian Mashhadi Jews in Israel is phylogenetically related to that of Japan, India, and South America rather than to that of Africa and Melanesia.

A new endemic focus of human T-lymphotropic virus type I (HTLV-I) was recently reported among Mashhadi Jews, a group of immigrants from northeastern Iran to Israel. We extracted DNAs from fresh peripheral blood mononuclear cells (PBMCs) and/or gargle mouthwash from 10 HTLV-I carriers, who consisted of members of one family, and HTLV-I-associated myelopathy (HAM) and adult T-cell leukemia (ATL) patients. Long terminal repeat (LTR) regions of proviral DNAs were sequenced and analyzed phylogenetically. In a phylogenetic tree, all the Mashhadi HTLV-I isolates belonged to subtype A, one of the three subtypes of the cosmopolitan type of HTLV-I, and made a tight cluster distinct from the other isolates of subtype A from Japan, India, the Caribbean Basin, and South America. Although a few nucleotide substitutions were observed among the clones sequenced, no characteristic sequence variation was found in different disease manifestations, even in one family or different sources of DNA preparation.

Adult↗
PubMed2002

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive inherited neurological disorder characterized by macrocephaly, deterioration in motor functions and cerebellar ataxia. In Israel the disease is found in an increased frequency among Libyan Jews. The disease is caused by mutations in the MLC1 gene, which encodes a putative CNS membrane transporter. We describe three novel mutations (p.G59E, p.P92S, and 134_136insC) in seven MLC families. One of these mutations, p.G59E, was found in the vast majority of MLC patients in Israel. Screening of 200 normal Libyan Jewish individuals for the p.G59E mutation, revealed a carrier rate of 1/40 compared with an expected carrier rate of 1/81. Several explanations could account for this difference the most likely one is an admixture of the Libyan Jewish population.

Central Nervous System Cysts↗
PubMed2004

Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

The 1278insTATC is the most prevalent beta-hexosaminidase A ( HEXA) gene mutation causing Tay-Sachs disease (TSD), one of the four lysosomal storage diseases (LSDs) occurring at elevated frequencies among Ashkenazi Jews (AJs). To investigate the genetic history of this mutation in the AJ population, a conserved haplotype (D15S981:175-D15S131:240-D15S1050:284-D15S197:144-D15S188:418) was identified in 1278insTATC chromosomes from 55 unrelated AJ individuals (15 homozygotes and 40 heterozygotes for the TSD mutation), suggesting the occurrence of a common founder. When two methods were used for analysis of linkage disequilibrium (LD) between flanking polymorphic markers and the disease locus and for the study of the decay of LD over time, the estimated age of the insertion was found to be 40+/-12 generations (95% confidence interval: 30-50 generations), so that the most recent common ancestor of the mutation-bearing chromosomes would date to the 8th-9th century. This corresponds with the demographic expansion of AJs in central Europe, following the founding of the Ashkenaz settlement in the early Middle Ages. The results are consistent with the geographic distribution of the main TSD mutation, 1278insTATC being more common in central Europe, and with the coalescent times of mutations causing two other LSDs, Gaucher disease and mucolipidosis type IV. Evidence for the absence of a determinant positive selection (heterozygote advantage) over the mutation is provided by a comparison between the estimated age of 1278insTATC and the probability of the current AJ frequency of the mutant allele as a function of its age, calculated by use of a branching-process model. Therefore, the founder effect in a rapidly expanding population arising from a bottleneck provides a robust parsimonious hypothesis explaining the spread of 1278insTATC-linked TSD in AJ individuals.

Alleles↗
PubMed1989

Familial empiric risk estimates of inflammatory bowel disease in Ashkenazi Jews.

Genetic factors have been implicated in the etiology of inflammatory bowel disease (IBD) because of the increased occurrence of IBD in relatives. To further characterize the familial aggregation of IBD, we obtained family histories by interview on 188 IBD patients, including 154 Ashkenazi Jews (82%), ascertained through a Los Angeles gastroenterology practice. Thirty-three index cases (17.6%) had at least one affected first-degree relative; an additional 11 had more distant affected relatives. Thus, 23.4% of our sample had a positive family history. The quantification of empiric risk estimates for various classes of relatives has been quite limited and has been reported in only a few series. An important goal of our study was the determination of the specific empiric risk figures for relatives. We obtained uncorrected risk estimates of 2.5% to off-spring, 5.2% to siblings, and 2.9% to parents. Although the highest risk we observed is to siblings, IBD has a variable and often late age of onset, and it is likely that many relatives, particularly offspring, of patients in this sample have not reached the age at which they will manifest clinical disease. Thus, these uncorrected risks as well as those reported in the literature are an underestimate of the true empiric risks. To provide an estimate of the true lifetime risks, we utilized age-specific incidence data to calculate the following age-corrected empiric risk estimates for IBD: 8.9% to offspring, 8.8% to siblings, and 3.5% to parents. It is these latter age-corrected estimates that are most appropriate for both genetic counseling and genetic modeling.

Adolescent↗