Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Jews”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 325 records · Page 18Linked to original sources
PubMed1994

The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.

Idiopathic torsion dystonia (ITD) is characterized by involuntary twisting movements and postures. A gene for this disorder, DYT1, was mapped to chromosome 9q34 in 12 Ashkenazi Jewish (AJ) families and one large non-Jewish kindred. In the AJ population, strong linkage disequilibrium exists between DYT1 and adjacent markers within a 2-cM region. The associated haplotype occurs in > 90% of early limb-onset AJ cases. We examined seven non-Jewish ITD families of northern European and French Canadian descent to determine the extent to which early-onset ITD in non-Jews maps to DYT1. Results are consistent with linkage to the DYT1 region. Affected individuals in these families are clinically similar to the AJ cases; i.e., the site of onset is predominantly in the limbs and at least one individual in each pedigree had onset before age 12 years. None carries the AJ haplotype; therefore, they probably represent different mutations in the DYT1 gene. The two French Canadian families, however, display the same haplotype. Estimates of penetrance in non-Jewish families range from .40 to .75. We identified disease gene carriers and, with adjustments for age at onset, obtained a direct estimate of penetrance of .46. This is consistent with estimates of 30%-40% in the AJ population. Two other non-Jewish families with atypical ITD (later onset and/or cranial or cervical involvement) are not linked to DYT1, which indicates involvement of other genes in dystonia.

Adolescent↗
PubMed1993

Familial Mediterranean fever (FMF) in Moroccan Jews: demonstration of a founder effect by extended haplotype analysis.

Familial Mediterranean fever (FMF) is an autosomal recessive disease causing attacks of fever and serositis. The FMF gene (designated "MEF") is on 16p, with the gene order 16cen-D16S80-MEF-D16S94-D16S283-D16S291-++ +16pter. Here we report the association of FMF susceptibility with alleles as D16S94, D16S283, and D16S291 among 31 non-Ashkenazi Jewish families (14 Moroccan, 17 non-Moroccan). We observed highly significant associations at D16S283 and D16S291 among the Moroccan families. For the non-Moroccans, only the allelic association at D16S94 approached statistical significance. Haplotype analysis showed that 18/25 Moroccan FMF chromosomes, versus 0/21 noncarrier chromosomes, bore a specific haplotype for D16S94-D16S283-D16S291. Among non-Moroccans this haplotype was present in 6/26 FMF chromosomes versus 1/28 controls. Both groups of families are largely descended from Jews who fled the Spanish Inquisition. The strong haplotype association seen among the Moroccans is most likely a founder effect, given the recent origin and genetic isolation of the Moroccan Jewish community. The lower haplotype frequency among non-Moroccan carriers may reflect differences both in history and in population genetics.

Alleles↗
PubMedDate not supplied

Descriptive epidemiology of malignant tumors in Ethiopian Jews immigrating to Israel, 1984-89.

This descriptive epidemiological study analyzes the frequency of cancer after the arrival of Ethiopian immigrants as reported to the Israel Cancer Registry from 1984 to 1989. The study cohort comprised 8,272 individuals (estimated 4,253 males and 4,019 females) with 27,966 and 26,848 person-years observed for males and females, respectively. Overall cancer incidence in this migrant cohort was low for both genders compared to cancer incidence among Jews born in Israel. The standardized incidence ratio (SIR) (in percentage) for cancers at all sites was 39 [95% confidence interval (CI) = 22-64] and 63 (95% CI = 41-92) for males and females, respectively. Male primary liver cancer and female thyroid cancer had high SIRs. All other sites had either average or low SIRs. No cases of neoplasms were reported in the respiratory system. Except for primary liver cancer, digestive neoplasms had an inverse male: female ratio.

Adolescent↗
PubMed1995

Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene.

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a prion disease which is manifest as a sporadic, inherited, and transmissible neurodegenerative disorder. The mean age at onset of CJD is approximately 60 years, and as such, many people destined to succumb undoubtedly die of other illnesses first. The delayed onset of CJD has complicated the analysis of inherited forms of the illness and led to the suggestion that mutations in the prion protein (PrP) gene are necessary but not sufficient for prion disease despite genetic linkage; indeed, an environmental factor such as a ubiquitous virus has been proposed as a second necessary factor. MATERIALS AND METHODS: To examine what appeared to be incomplete penetrance, we applied a life-table analysis to clinical and pedigree data from a cluster population of Libyan Jews in which the E200K mutation is prevalent. The study population included 42 affected and 44 unaffected members of 13 Libyan Jewish families, all of whom possessed the E200K mutation. RESULTS: The calculated value using life table analysis is 0.77 at age 70 which increases to 0.89 if a mutation carrier survives to age 80 and 0.96 if age 80 is surpassed. CONCLUSIONS: These data argue that the E200K mutation alone is sufficient to cause prion disease and does so in an age-dependent manner.

Adolescent↗
PubMed1996

Traditional beliefs and disease practices of Ethiopian Jews.

In an attempt to assess concepts of disease, we questioned 33 Ethiopian Jews (Falashas) in Ethiopia about 13 diseases: 8 western and 5 cultural syndromes (in the Amharic language): birrd (cold), wugat (stabbing chest pain), moygnbagegn (neurologic disorder), mitch (sunstroke), and attent hono kere (retained fetus becoming bone). Disease causation was often attributed to spirits and the sun. None of the interviewees understood the cause of: a) epilepsy, most attributing it to spirits and recommending smelling match smoke as treatment, b) prolonged labor, attributed by most to the evil kole spirit and is managed by traditional birth attendants; and c) abortion, believed to be caused by exposure to sun or cold. Less than 20% linked malaria to mosquitoes. Most correlated splenomegaly with malaria. Hepatitis was believed to be caused by a bird or bat flying around the affected person. Multiple factors were linked to diarrhea, including a journey in the sun. Moygnbagegn is the only condition treated by venisection from brachial veins; wugat is treated by "cupping". Modern medicine was recommended by < 30% of those questioned for epilepsy, splenomegaly, hepatitis, and Ethiopian cultural diseases. It was recommended most for malaria (52%), sexually transmitted diseases (55%), and diarrhea (69%).

Adolescent↗
PubMed1997

Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.

Cystinuria is a hereditary disorder of amino acid transport and is manifested by the development of kidney stones. In some patients the disease is caused by mutations in the SLC3A1 gene, which is located on the short arm of chromosome 2 and encodes a renal/intestinal transporter for cystine and the dibasic amino acids. In Israel cystinuria is especially common among Jews of Libyan origin. After excluding SLC3A1 as the disease-causing gene in Libyan Jewish patients, we performed a genomewide search that shows that the Libyan Jewish cystinuria gene maps to the long arm of chromosome 19. Significant linkage was obtained for seven chromosome 19 markers. A maximal LOD score of 9.22 was obtained with the marker D19S882. Multipoint data and recombination analysis placed the gene in an 8-cM interval between the markers D19S409 and D19S208. Significant linkage disequilibrium was observed for alleles of four markers, and a specific haplotype comprising the markers D19S225, D19S208, D19S220, and D19S422 was found in 11 of 17 carrier chromosomes, versus 1 of 58 Libyan Jewish noncarrier chromosomes.

Amino Acid Transport Systems, Basic↗
PubMed1997

Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families.

Germ-line BRCA1 and BRCA2 mutations account for most of familial breast-ovarian cancer. In Ashkenazi Jews, there is a high population frequency (approximately 2%) of three founder mutations: BRCA1 185delAG, BRCA1 5382insC, and BRCA2 6174delT. This study examined the frequency of these mutations in a series of Ashkenazi women with ovarian cancer unselected for family history, compared with the frequency of these mutations in families ascertained on the basis of family history of at least two affected women. Penetrance was compared, both according to the method of family ascertainment (i.e., on the basis of an unselected ovarian cancer proband vs. on the basis of family history) and for the BRCA1 founder mutations compared with the BRCA2 6174delT mutation. There was a high frequency (10/22; [45%]) of germ-line mutations in Ashkenazi women with ovarian cancer, even in those with minimal or no family history (7/18 [39%]). In high-risk Ashkenazi families, a founder mutation was found in 59% (25/42). Families with any case of ovarian cancer were significantly more likely to segregate a founder mutation than were families with site-specific breast cancer. Penetrance was higher in families ascertained on the basis of family history than in families ascertained on the basis of an unselected proband, but this difference was not significant. Penetrance of BRCA1 185delAG and BRCA1 5382insC was significantly higher than penetrance of BRCA2 6174delT (hazard ratio 2.1 [95% CI 1.2-3.8]; two-tailed P = .01). Thus, the high rate of germ-line BRCA1/BRCA2 mutations in Ashkenazi women and families with ovarian cancer is coupled with penetrance that is lower than previously estimated. This has been shown specifically for the BRCA2 6174delT mutation, but, because of ascertainment bias, it also may be true for BRCA1 mutations.

Adult↗
PubMed1997

Genetics of the Chuetas (Majorcan Jews): a comparative study.

A study of the Chueta population has been carried out to establish the genetic relationships between the Chuetas and other Jewish and non-Jewish circum-Mediterranean populations and to identify which markers discriminate better between these populations. The analyses used were principal components analysis, factorial analysis of correspondences, and stepwise discriminant analysis. The results indicate that most of the Jewish communities resemble each other and other Middle Eastern populations, because of their common origin, but they also have affinities with their host peoples. The results also agree with those of most researchers in the importance of G6PD, FY, and MN as geographic markers and in the role of HP, GLO1, and Rh as indicators the Middle Eastern origin of the Jews but differ with respect to the geographic pattern of ABO. Moreover, the Jewish origin of the Chuetas remains evident in their genetic pool, although they resemble their neighboring populations more than other Jewish populations. Finally, HP, G6PD, ABO and Rh are the most important variables in determining the position of the Chuetas with respect to other Jewish and non-Jewish populations.

Discriminant Analysis↗
PubMed2005

Jew's mellow leaves (Corchorus olitorius) suppress elevation of postprandial blood glucose levels in rats and humans.

The study was performed to explore the suppressive effect of Jew's mellow leaves (JML) on postprandial blood glucose levels in rats and humans. A soluble dietary fiber (SDF) was extracted from the freeze-dried JML powder. An elevation of the postprandial blood glucose level in rats given 1% or 2% JML-SDF solution orally together with 20% glucose solution was significantly suppressed as compared with that observed in the control rats given only glucose solution. When seven healthy young male adults ingested 225 mL of JML mixed juice containing 15 g of freeze-dried powder with 75 g of glucose in the fasting state in the morning, the elevation of the postprandial blood glucose level was significantly suppressed as compared with the control subjects. The diffusion rate of glucose and the permeation rate of glucose in the cultured Caco-2 cells were both significantly reduced by the addition of appropriate amounts of JML-SDF when compared to the controls. These results indicate that the effective substance in JML for suppressing blood glucose elevation is a kind of mucilaginous SDF. The mechanism by which this suppression occurs may be largely attributable to the delayed absorption of glucose from the intestinal membrane in the upper digestive tract by viscous SDF.

Adult↗
PubMed1990

Effect of benign familial neutropenia on the periodontium of Yemenite Jews.

The purpose of this study was to compare the periodontal status of Yemenite Jews with and without benign familial neutropenia (BFN). Thirty-four volunteers were examined at baseline and after 3 years. Plaque index (PlI), bleeding index (BI) probing depth (PD), and attachment levels (AL) were recorded. Differential blood counts were done on at least three occasions during the study. Volunteers with at least one count of less than 2000 neutrophils were considered neutropenic. The majority of patients received oral hygiene instructions and scaling at the initial visit. During the study there was a significant drop in PlI (P less than 0.01) and BI (P less than 0.05). At baseline the BFN and non-BFN volunteers had similar PlI, but the BI was significantly greater in the BFN group. At follow-up, there was a significantly greater number of teeth with pockets greater than or equal to 6 mm in the BFN group (P less than 0.05). These results indicate that volunteers with BFN, a phenomenon that has not previously been associated with any pathology, are more susceptible to gingival inflammation and attachment loss than unaffected volunteers and that they respond more favorably to an improvement in oral hygiene.

Adult↗
PubMed1985

Functional analysis of a beta-globin gene containing a TATA box mutation from a Kurdish Jew with beta thalassemia.

We recently reported a TATA box mutation (ATAAAA to ATACAA) in a cloned beta-globin gene from a Kurdish Jew with homozygous beta thalassemia (Poncz, M., Ballantine, M., Solowiejczyk, D., Barak, I., Schwartz, E., and Surrey, S. (1982) J. Biol. Chem. 257, 5994-5996). We have now introduced this gene into HeLa cells after CaPO4 precipitation of the DNA and studied expression by analyzing globin-gene transcripts with a novel S1 nuclease mapping assay. Quantitative and qualitative comparison with the normal beta-globin gene revealed a promoter-down phenotype in the TATA box mutant, with normal RNA processing, and a normal start site for initiation of the primary transcript. Decreased transcriptional efficiency was confirmed directly by analysis of run-off transcripts using assays in vitro. The patient's phenotype of beta thalassemia major is probably the result of two different mutations since haplotype analysis of the beta-like globin gene clusters in genomic DNA from this patient shows heterozygosity for the Mediterranean-type haplotypes I and VII, with the TATA box mutation on a haplotype I chromosomal background.

Base Sequence↗
PubMed1982

beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box.

We recently described a "non-random" sequencing procedure for DNA inserts in bacteriophage M13 using Bal 3 nuclease and the dideoxy chain termination method (Poncz, M., Solowiejczyk, D., Ballantine, M., Schwartz, E., and Surrey, S. (1982) Proc. Natl. Acad. Sci. U. S. A., in press). Using this procedure, we have determined the nucleotide sequence of a cloned human beta-globin gene from a Kurdish Jew with beta +-thalassemia major. Comparison with the previously reported human beta-globin gene sequences (1-3) reveals a change in the "T-A-T-A" box. This region 5' to the capping site was previously demonstrated to be critical for the proper transcription in vitro of several different eukaryotic genes (4-7). This is the first report of a T-A-T-A box modification found in association with a spontaneously occurring human genetic disorder. In addition to this mutation, other base changes, an insertion, and a deletion in the cloned gene were found in the 5' and 3' flanking regions.

Base Sequence↗