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At least 451 records · Page 25Linked to original sources
PubMed1995

Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel.

Familial Mediterranean fever (FMF) is an autosomal recessive recurrent episodic inflammatory disorder that occurs with high frequency in certain populations in the Mediterranean area. Using extended pedigree data of 90 FMF probands, we calculated the FMF gene frequency in various ethnic groups in Israel by analyzing the frequency in a total of 2,312 first cousins. The heterozygote frequencies were as follows: 1:4.9 (0.2 +/- 0.06) for the Libyan subgroup, 1:6.4 (0.16 +/- 0.03) for the other North African countries subgroup, 1:13.3 (0.07 +/- 0.04) for the Iraqi subgroup, 1:11.4 (0.09 +/- 0.06) for the Ashkenazic subgroup, and 1:29.4 (0.03 +/- 0.03) for the remaining ethnic groups. The observed number of affected parents and offspring of the probands was in agreement with the estimated gene frequency. Thus, the FMF gene frequency is very high in all Jewish ethnic groups in Israel, especially those originating in North African countries. This also explains the parent-to-off-spring transmission of FMF reported in North-African Jews.

Africa, Northern↗
PubMed1975

Anthropological studies among Libyans. Erythrocyte genetic factors, serum haptoglobin phenotypes and anthropometry.

Anthropological studies were done on 1276 Libyans from the Mediterranean cities of Tripoli and Benghazi, and from Sabha southward in The Sahara. The incidences of hemoglobin (Hb)-S and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were low in the coastal areas and significantly high in Sabha. Hb-C occurred sporadically in Tripoli and Sabha, and was absent from Benghazi in the east. One case of Hb-J Benghazi was noted. There were no sigificant differences in the ABO blood group and Rh0 (D) type distributions in the three localities. G-6-PD gene GdAfrequency was significantly high in Sabha. The lowest value of 6-phosphogluconate dehydrogenase (6-PGD) gene PGDA frequency and highest value of the gene PGDC were in Sabha. Adenylate kinase (AK) gene AK2 was only detectable in Tripoli. Acid phosphatase (AP) gene Pa frequency in Sabha was more than twice that in Tripoli and Benghazi, while pc was distinctly lower in Sabha than in the northern cities. Haptoglobin gene Hp1 frequency was almost identical in all areas. Anthropometric measurements revealed overall homogeneity of the three samples, closer similarity in the coastal region to adjacent North African populations, and Negroid influence in the Sahara Libyans. Anthropometry substantiated findings from blood markers.

ABO Blood-Group System↗
PubMed1997

A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.

Familial Mediterranean fever (FMF) is a recessive disorder of inflammation caused by mutations in a gene (designated MEFV) on chromosome 16p13.3. We have recently constructed a 1-Mb cosmid contig that includes the FMF critical region. Here we show genotype data for 12 markers from our physical map, including 5 newly identified microsatellites, in FMF families. Intrafamilial recombinations placed MEFV in the approximately 285 kb between D16S468/D16S3070 and D16S3376. We observed significant linkage disequilibrium in the North African Jewish population, and historical recombinants in the founder haplotype placed MEFV between D16S3082 and D16S3373 (approximately 200 kb). In smaller panels of Iraqi Jewish, Arab, and Armenian families, there were significant allelic associations only for D16S3370 and D16S2617 among the Armenians. A sizable minority of Iraqi Jewish and Armenian carrier chromosomes appeared to be derived from the North African Jewish ancestral haplotype. We observed a unique FMF haplotype common to Iraqi Jews, Arabs, and Armenians and two other haplotypes restricted to either the Iraqi Jewish or the Armenian population. These data support the view that a few major mutations account for a large percentage of the cases of FMF and suggest that some of these mutations arose before the affected Middle Eastern populations diverged from one another.

Alleles↗
PubMed1999

Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1 using historical recombinants in Libyan Jewish cystinuria patients.

Cystinuria is a genetic disease manifested by the development of kidney stones. In some patients, the disease is caused by mutations in the SLC3A1 gene located on chromosome 2p. In others, the disease is caused by a gene that maps to chromosome 19q, but has not yet been cloned. Cystinuria is very common among Jews of Libyan ancestry living in Israel. Previously we have shown that the disease-causing gene in Libyan Jews maps to an 8-cM interval on chromosome 19q between the markers D19S409 and D19S208. Several markers from chromosome 19q showed strong linkage disequilibrium, and a specific haplotype was found in more than half of the carrier chromosomes. In this study we have analyzed Libyan Jewish cystinuria families with eight markers from within the interval containing the gene. Seven of these markers showed significant linkage disequilibrium. A common haplotype was found in 16 of the 17 carrier chromosomes. Analysis of historical recombinants placed the gene in a 1.8-Mb interval between the markers D19S430 and D19S874. Two segments of the historical carrier chromosome used to calculate the mutation's age revealed that the disease-causing mutation was introduced into this population 7-16 generations ago.

Alleles↗
PubMed1999

Simple and rapid identification of different species of Mycobacteria by PCR.

A simple polymerase chain reaction (PCR) assay for rapid identification of different species of mycobacteria was developed. This PCR is based on the use of conserved sequences to amplify the genome of several mycobacterial species. The amplification patterns obtained were specific and reproducible for the species tested. In particular, we could identify Mycobacterium tuberculosis and Mycobacterium bovis (both produced the same pattern), Mycobacterium avium, Mycobacterium kansasii, Mycobacterium xenopi, Mycobacterium chelonae, Mycobacterium peregrinum, Mycobacterium fortuitum, Mycobacterium gordonae and Mycobacterium smegmatis. Moreover, due to the numerous copies of the target sequences present in the genome, the PCR showed a very high level of sensitivity.

AIDS-Related Opportunistic Infections↗
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↗
PubMed1988

Genetic polymorphism of desialyzed alpha 2 HS-glycoprotein by ultrathin isoelectric focusing.

The genetically determined polymorphism of alpha 2 HS-glycoprotein was analyzed by immunoblotting ultrathin-layer polyacrylamide gel isoelectric focusing in the pH range 4-6.5 and neuraminidase pretreated sera. In a Libyan population sample from Tripoli (n = 110) three common phenotypes, alpha 2 HSG 1-1, 2-1, and 2-2, were observed. The allele frequencies were alpha 2 HSG1 = 0.8364 and alpha 2 HSG2 = 0.1636. The theoretical exclusion rate in cases of disputed paternity is 11.8%.

Blood Proteins↗
PubMed1980

Gm and Inv [Km] allotypes among Libyan and Ashkenazi jews, and Armenians living in Israel.

Serum samples from Armenians, and from Libyan and Ashkenazi Jews living in Israel were tested for Gm (1, 2, 3, 5, 6, 10, 11, 13, 14, 17, 21, 24, 26) and for Inv(1) [Km (1)]. The Gm data indicate that all three populations have Negroid and Mongoloid admixture. The minimum amount of admixture varies from 3.1% (Armenians) to 5.5% (Libyan Jews). This admixture had not been detected by the study of other polymorphisms, thus once again underlining the sensitivity of the Gm system. The haplotype frequencies among the Libyan Jews are markedly different from those among the Ashkenazi Jews. Surprisingly (coincidentally?) the haplotype frequencies among the Ashkenazi Jews and the Armenians are similar. The Libyan Jews have a significantly higher frequency of Inv1 than to the Ashkenazi Jews and among the latter, Inv1 is at least twice as frequent among Polish Jews as it is among Russian Jews.

Armenia↗