Ashkenaz

One Y-specific DNA polymorphism (p49/Taq I) was studied in 54 Lebanese and 69 Palestinian males, and compared with the results found in 693 Jews from three communities (Oriental, Sephardic, and Ashkenazic). Lebanese, Palestinian, and Sephardic Jews seem to be similar in their Y-haplotype patterns, both with regard to the haplotype distributions and the ancestral haplotype VIII frequencies. The haplotype distribution in Oriental Jews is characterized by a significantly higher frequency of haplotype VIII. These results confirm similarities in the Y-haplotype frequencies in Lebanese, Palestinian, and Sephardic Jewish men, three Near-Eastern populations sharing a common geographic origin...

Substantial differences exist in the incidence rates of uveal melanoma (UM) among Israeli Jewish subpopulations: high in immigrants from North America and Europe (Ashkenazic) and low in immigrants from Africa and Asia (Sepharadic). This trend persists in Israeli-born individuals when stratified by their ancestral place of birth. There have been several anecdotal reports of uveal melanoma occurring in breast cancer families with mutations in the BRCA2 gene as well as one systematic study reporting BRCA2 mutations in UM...

A variety of genetically influenced alcohol-related phenotypes relate to risk for alcohol dependence. In Asians, variation in the alcohol dehydrogenase (ADH2) gene relates to alcohol dependence, alcohol consumption, and reported alcohol-related symptoms, even after controlling for variation in the aldehyde dehydrogenase (ALDH2) gene. The association of ADH2 polymorphisms with alcohol-related behavior, however, has not been well characterized in non-Asians. This study evaluated 84 Ashkenazic Jewish American college students to determine the prevalence of the ADH2*2 allele (0...

OBJECTIVE: Since its foundation in 1948, Israel has received large waves of immigrants, mainly from Europe (Ashkenazic Jews, or Ashkenazim) and from North Africa and other Middle Eastern countries (Sephardic Jews. or Sephardim). In Israeli society, Ashkenazic Jews are an advantaged ethnic group, whereas Sephardic Jews are relatively disadvantaged. Little is known about the differences in drinking patterns between these two groups. The relationship between ethnicity and alcohol consumption is investigated in a 1995 data set from a sample of 4,984 subjects (60% women)...

The Lemba are a traditionally endogamous group speaking a variety of Bantu languages who live in a number of locations in southern Africa. They claim descent from Jews who came to Africa from "Sena." "Sena" is variously identified by them as Sanaa in Yemen, Judea, Egypt, or Ethiopia. A previous study using Y-chromosome markers suggested both a Bantu and a Semitic contribution to the Lemba gene pool, a suggestion that is not inconsistent with Lemba oral tradition. To provide a more detailed picture of the Lemba paternal genetic heritage, we analyzed 399 Y chromosomes for six microsatellites and six biallelic markers in six populations (Lemba, Bantu, Yemeni-Hadramaut, Yemeni-Sena, Sephardic Jews, and Ashkenazic Jews)...

Most cases of early onset torsion dystonia are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A gene (alias DYT1, DQ2), resulting in loss of a glutamic acid in the carboxy terminal of the encoded protein, torsin A. TOR1A and its homologue TOR1B (alias DQ1) are located adjacent to each other on human chromosome 9q34. Both genes comprise five similar exons; each gene spans a 10-kb region. Mutational analysis of most of the coding region and splice junctions of TOR1A and TOR1B did not reveal additional mutations in typical early onset cases lacking the GAG deletion (N = 17), in dystonic individuals with apparent homozygosity in the 9q34 chromosomal region (N = 5), or in a representative Ashkenazic Jewish individual with late onset dystonia, who shared a common haplotype in the 9q34 region with other late onset individuals in this ethnic group...

Ethnic differences in cancer incidence and mortality exist and are probably the result of genetic and epidemiological risk factors. Genetic differences caused by founder mutations are reviewed, with special emphasis on mutations in BRCA1 and BRCA2. Germline mutations in cancer susceptibility genes have been identified in individuals of all races and ethnic groups. Differences among ethnic groups for cancer risks have been recognized, and a proportion of the differences may be the result of founder mutations within these genes...

The discovery of genes responsible for inherited forms of colorectal cancer have the potential to improve cancer risk assessment and counseling. Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors. Mutations in APC are also associated with forms of attenuated familial adenomatous polyposis. Germline mutations in five mismatch repair related genes (hMSH2, hMLH1, hMSH6, hPMS1, and hPMS2) cause hereditary nonpolyposis colorectal cancer and are associated with increased risk of somatic genetic alterations and high DNA microsatellite instability...

Our research team and laboratories have concentrated on two inherited endocrine disorders, congenital adrenal hyperplasia (CAH) and apparent mineralocorticoid excess, in thier investigations of the pathophysiology of adrenal steroid hormone disorders in children. CAH refers to a family of inherited disorders in which defects occur in one of the enzymatic steps required to synthesize cortisol from cholesterol in the adrenal gland. Because of the impaired cortisol secretion, adrenocorticotropic hormone levels rise due to impairment of a negative feedback system, which results in hyperplasia of the adrenal cortex...

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Bloom syndrome (BS) is more frequent in the Ashkenazic Jewish population than in any other. There the predominant mutation, referred to as "blmAsh," is a 6-bp deletion and 7-bp insertion at nucleotide position 2281 in the BLM cDNA. Using a convenient PCR assay, we have identified blmAsh on 58 of 60 chromosomes transmitted by Ashkenazic parents to persons with BS. In contrast, in 91 unrelated non-Ashkenazic persons with BS whom we examined, blmAsh was identified only in 5, these coming from Spanish-speaking Christian families from the southwestern United States, Mexico, or El Salvador...

Classic Kaposi sarcoma is an indolent cutaneous proliferative disease affecting mainly elderly people of Mediterranean and Jewish origin. The authors review the epidemiologic and clinical findings in Israeli patients with classic Kaposi sarcoma treated at the Institute of Oncology, Rabin Medical Center. A total of 123 patients were identified. The average age at diagnosis was 68 years (range, 20-90 years) and, as expected, there was a strong predominance of men (2.4:1). All but two patients were Jewish. The distribution of Ashkenazic Jews and Sephardic Jews was almost equal...

In Israel, SSPE has been shown to be much more frequent among Sephardic Jews and Arabs than among Ashkenazic Jews. In the present study, we tried to explore environmental factors that may be of etiological importance and explain these differences in prevalence. The study is a case-control one, which includes 95 patients and 2 groups of controls, with 95 people in each. The general population controls were group-matched to the case group by sex, age, and ethnic origin. The family controls consisted of the sibling closest in age to each patient...

OBJECTIVE: To compare the clinical features of patients with fibromyalgia (FM) in 2 ethnic groups in Israel. METHODS: One hundred women with FM participated in the study; 70 were of Sephardic (Mediterranean) origin and 30 of Ashkenazic (European-American) origin. Assessment of FM related symptoms, tenderness, quality of life, and physical functioning was conducted in all subjects. Analysis of covariance and multivariate regression were performed to study the association between these measures and ethnicity, controlling for age and education...

OBJECTIVE: This study provides preliminary evidence on the associations between alcohol consumption patterns and polymorphisms of the alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH) enzymes in a Jewish population. METHOD: Two groups of Jewish men were studied--one group (n = 92) representative of the free-living population of Jerusalem and generally light consumers of ethanol and the other group (n = 53) composed of treatment-enrolled heroin dependent individuals in the same city, most with a history of heavy daily drinking...

Myotonic dystrophy (DM) is associated with an increased number of CTG repeats in the 3' untranslated region of the myotonin gene. Because DM has been observed more frequently in North African Jews than in Ashkenazic Jews in Israel, a study of the CTG repeat polymorphism was undertaken in these 2 groups. Alleles from 70 unrelated North African subjects and 70 unrelated Ashkenazic subjects were studied by PCR analysis of the trinucleotide repeat in the DM gene to determine the ethnic distribution of the number of CTG repeats...

Myotonic dystrophy (DM) is associated with an increased number of CTG repeats in the 3' untranslated region of the myotonin gene. Because DM has been observed less frequently in Ashkenazic Jews and non-Jews than in North African and Yemenite Jews in Israel, a study of the CTG repeat polymorphism was undertaken in these four groups. Alleles from 126 unrelated healthy North African Jews, 103 Yemenite Jews, 103 Ashkenazic Jews, and 106 Israeli Moslem Arabs were studied by PCR analysis of the trinucleotide repeat in the DM gene, and the size distribution of the CTG repeat was determined...

The DYT1 gene, which maps to chromosome 9q34, appears to be responsible for most cases of early-onset torsion dystonia in both Ashkenazic Jewish (AJ) and non-Jewish families. This disease is inherited in an autosomal dominant mode with reduced penetrance (30%-40%). The abnormal involuntary movements associated with this disease are believed to be caused by unbalanced neural transmission in the basal ganglia. Previous linkage disequilibrium studies in the AJ population placed the DYT1 gene in a 2-cM region between the loci D9S62a and ASS...

BACKGROUND: Genetic regulation of immunoglobulin G(IgG) responses to pneumococcal capsular polysaccharides (PPS), has been demonstrated in mice but not in humans. Earlier studies from this laboratory showed that healthy adults have a varying capacity to generate IgG antibody to PPS; this study sought to determine whether this capacity is genetically controlled. METHODS: A 23-valent pneumococcal vaccine was administered to 72 unrelated White adults, 4 nuclear families, and 61 members of an extended Ashkenazic Jewish family...

OBJECTIVE: To describe a patient with neutropenic fever complicated by hyperglycemia, lactic acidosis, and fatal myocardial failure associated with clozapine therapy. CASE SUMMARY: A 37-year-old Ashkenazic Jewish man was admitted for agranulocytosis and fever, which developed after 11 weeks of clozapine monotherapy for drug-resistant schizophrenia. Complete blood counts and a routine serum chemical analysis had been normal before the treatment was initiated, and remained within normal limits during the first 10 weeks of the treatment...