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Yemenic jews genes

Michal Sagi, Avital Eilat, Liat Ben Avi, Yael Goldberg, Dani Bercovich, Tamar Hamburger, Tamar Peretz, Israela Lerer
Founder mutations in BRCA1/2 genes have been detected in several Jewish communities in Israel, including in Ashkenazi Jews and Jews who immigrated to Israel from Iraq, Yemen, Iran and Afghanistan. We analyzed DNA samples of patients of Sephardic origin (descendents of Jews from the Iberian Peninsula) with breast cancer (BC) and/or ovarian cancer (OC) and additional family history of these cancers. In this study we identified 2 mutations: p.A1708E in BRCA1 and c.67 + 1G > A (IVS2 + 1G > A) in BRCA2, each in 3 unrelated patients...
March 2011: Familial Cancer
Amy L Non, Ali Al-Meeri, Ryan L Raaum, Luisa F Sanchez, Connie J Mulligan
Southern Arabia and the Horn of Africa are important geographic centers for the study of human population history because a great deal of migration has characterized these regions since the first emergence of humans out of Africa. Analysis of Jewish groups provides a unique opportunity to investigate more recent population histories in this area. Mitochondrial DNA is used to investigate the maternal evolutionary history and can be combined with historical and linguistic data to test various population histories...
January 2011: American Journal of Physical Anthropology
Gie Ken-Dror, Uri Goldbourt, Rachel Dankner
Several polymorphisms in the ApoA5 gene emerged as important candidate genes in triglyceride metabolism. The aim of this study was to determine the associations between ApoA5 polymorphisms, plasma triglyceride concentrations and the presence of cardiovascular disease (CVD) in three ethnic origins. Genotypes for 15 single nucleotide polymorphisms (SNPs) were determined in 659 older adults (mean age 71+/-7 years) who immigrated to Israel or whose ancestors originated from East Europe (Ashkenazi), North Africa, Asia (Sephardic) or Yemen (Yemenite)...
May 2010: Journal of Human Genetics
R Djaldetti, S Hassin-Baer, M J Farrer, C Vilariño-Güell, O A Ross, V Kolianov, S Yust-Katz, T A Treves, Y Barhum, M Hulihan, E Melamed
Yemenite Jews in Israel are a distinctive ethnic division of the Jewish diaspora. Clinical findings, disease course and genetic tests for the LRRK2 6055G > A (G2019S) mutation were compared between Ashkenazi and Yemenite Israeli patients with Parkinson's disease (PD). Age of onset was significantly younger in the Yemenites (P < 0.001). There were no differences in the distribution of initial symptoms, environmental risk factors or rate of motor/non-motor phenomena. The Yemenite group had a more severe disease (P < 0...
September 2008: Journal of Neural Transmission
D Bercovich, A Elimelech, T Yardeni, S Korem, J Zlotogora, N Gal, N Goldstein, B Vilensky, R Segev, S Avraham, R Loewenthal, G Schwartz, Y Anikster
Hyperphenylalaninemia (HPA) is a group of diseases characterized by a persistent elevation of phenylalanine levels in tissues and biological fluids. The most frequent form is phenylalanine hydroxylase deficiency, causing phenylketonuria (PKU). Among 159 Israeli patients (Jews, Muslim and Christian Arabs and Druze) with HPA, in whom at least one of the mutations was characterized, a total of 43 different mutations were detected, including seven novel ones. PKU was very rare among Ashkenazi Jews and relatively frequent among Jews from Yemen, the Caucasian Mountains, Bukhara and Tunisia...
May 2008: Annals of Human Genetics
Noa Auslender, Dror Sharon, Anan H Abbasi, Hanna J Garzozi, Eyal Banin, Tamar Ben-Yosef
PURPOSE: To investigate the genetic basis and clinical manifestations of a characteristic form of retinal degeneration in the Yemenite Jewish population. METHODS: Haplotype analysis for all known genes and loci underlying autosomal recessive nonsyndromic retinal degeneration was performed in a Yemenite Jewish family segregating autosomal recessive severe retinal degeneration. The causative mutation was detected by direct sequencing of the underlying gene, and its prevalence in additional affected and unaffected Yemenite Jews was determined...
December 2007: Investigative Ophthalmology & Visual Science
Grazia Palomba, Antonio Cossu, Eitan Friedman, Mario Budroni, Antonio Farris, Antonio Contu, Marina Pisano, Paola Baldinu, Maria C Sini, Francesco Tanda, Giuseppe Palmieri
BACKGROUND: The BRCA2-8765delAG mutation was firstly described in breast cancer families from French-Canadian and Jewish-Yemenite populations; it was then reported as a founder mutation in Sardinian families. We evaluated both the prevalence of the BRCA2-8765delAG variant in Sardinia and the putative existence of a common ancestral origin through a haplotype analysis of breast cancer family members carrying such a mutation. METHODS: Eight polymorphic microsatellite markers (D13S1250, centromeric, to D13S267, telomeric) spanning the BRCA2 gene locus were used for the haplotype analysis...
2007: BMC Cancer
Bella Kaufman, Yael Laitman, Marcelo A Carvalho, Limor Edelman, Tal Distelman Menachem, Jamal Zidan, Alvaro N Monteiro, Eitan Friedman
Founder mutations in the BRCA1 and BRCA2 genes have been discovered in the Ashkenazic Jewish population, but a founder mutation(s) has not been discovered among non-Ashkenazi Jews (NAJ). Two BRCA1 mutations (P1812A, P25T), and a BRCA2 mutation (5164del4) have been detected in NAJ high-risk families. We studied the prevalence of these three mutations in 270 high-risk NAJ families, including 85 from Iraq/Iran, 67 from North Africa, 27 from Yemen, 50 from the Balkan region, and 41 with mixed ancestry. The three mutations were detected only in individuals related to the original families...
2006: Genetic Testing
Esther Leshinsky-Silver, Zohar Landau, Sema Unlubay, Tzvy Bistrizer, Amnon Zung, Yardena Tenenbaum-Rakover, Liat Devries, Dorit Lev, Aaron Hanukoglu
BACKGROUND/AIMS: Isolated aldosterone biosynthesis defect causing congenital hyperreninemic hypoaldosteronism with otherwise normal adrenal function usually results from aldosterone synthase deficiency. Patients present with manifestations of mineralocorticoid deficiency during the first weeks of life. The largest numbers of cases have been described in Iranian Jews, who carried concomitantly two homozygous missense mutations (R181W and V386A). In a few cases with presumed aldosterone synthase deficiency no mutations in CYP11B2 gene have been identified...
2006: Hormone Research
Kenji Nakai, Wataru Habano, Keiko Nakai, Noriko Fukushima, Akira Suwabe, Shogo Moriya, Kaoru Osano, David Gurwitz
CYP2C9 is a major P450 2C enzyme, which hydroxylates about 16% of drugs that are in current clinical use and contributes to the metabolism of a number of clinically important substrate drugs such as warfarin. Ethnic differences in the genetic variation of CYP2C9 have been reported, and might be related to the frequencies of adverse reactions to drugs metabolized by CYP2C9 in different ethnic groups. In the present study, ethnic differences in the CYP2C9*2 and CYP2C9*3 allele distribution in Japanese and Israeli populations were evaluated using a newly developed oligonucleotide based DNA array (OligoArray(R))...
November 19, 2005: Life Sciences
Adina Quint, Israela Lerer, Michal Sagi, Dvorah Abeliovich
We have tested 144 unrelated Jewish patients suffering from the classical form of cystic fibrosis. The patients were screened for a panel of 12 mutations including the six Ashkenazi founder mutations (DeltaF508, W1282X, N1303K, G542X, 3849 + 10 kb C-->T, 1717-1G > A) and six mutations that were found in non-Ashkenazi Jewish patients (S549R (T-->G), G85E, 405 + 1G-->A, W1089X, Y1092, and D1152H). Patients of Georgian origin were tested also for the Q359K/T360K mutation. In addition, all the patients were tested for the IVS-8 variant (9T/7T/5T)...
July 30, 2005: American Journal of Medical Genetics. Part A
Huai-Rong Luo, Vasileios Aloumanis, Keh-Ming Lin, David Gurwitz, Yu-Jui Yvonne Wan
BACKGROUND: The cytochrome P450 isoenzymes CYP2C19 and CYP2D6 catalyze reactions involved in the metabolism of many widely used drugs. Their polymorphisms give rise to important interindividual and interethnic variability in the metabolism and disposition of several therapeutic agents and may cause differences in clinical response to some drugs. Individuals who carry two null alleles of either gene are known as poor metabolizers (PMs), while those who carry more than two copies of the functional CYP2D6 gene are ultrarapid metabolizers (UMs)...
2004: American Journal of Pharmacogenomics: Genomics-related Research in Drug Development and Clinical Practice
N Weintrob, E Sprecher, S Israel, O Pinhas-Hamiel, O J Kwon, K Bloch, N Abramov, A Arbel, Z Josefsberg, C Brautbar, P Vardi
OBJECTIVE: The Israeli Yemenite Jewish community has displayed an exceptionally rapid increase in the frequency of type 1 diabetes, having the highest rate of all Israeli ethnic groups. We studied the role of the environment, in relation to the nature and frequency of HLA class II genes, to evaluate its possible involvement in the development of diabetes. RESEARCH DESIGN AND METHODS: We interviewed 196 elderly Yemenite women, who had immigrated to Israel as adults, in programmed encounters about signs and symptoms of type 1 diabetes, infant feeding customs, and infectious diseases in Yemen...
April 2001: Diabetes Care
M G Thomas, T Parfitt, D A Weiss, K Skorecki, J F Wilson, M le Roux, N Bradman, D B Goldstein
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)...
February 2000: American Journal of Human Genetics
P Nisipeanu, R Inzelberg, S C Blumen, R L Carasso, N Hattori, H Matsumine, Y Mizuno
We report a Jewish family of Yemenite origin in which three brothers born from a consanguineous marriage had juvenile parkinsonism. The DNA samples from three affected brothers and one healthy brother were analyzed for the linkage to markers covering the autosomal-recessive juvenile parkinsonism (AR-JP) locus. A perfect homozygous cosegregation to the markers was found, giving a maximal lod score of 3.11 at D6S1579, D6S305, and D6S411, all of which are 0 cm apart from each other (nonparametric linkage score, 8...
October 22, 1999: Neurology
O Jakobovitz-Picard, D Olchovsky, O Nativ, M B Resnick, G Rechavi, A Karasik, E Friedman
No abstract text is available yet for this article.
November 1999: Human Mutation
H T Henneveld, R A van Lingen, B C Hamel, I Stolte-Dijkstra, A J van Essen
Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous...
October 29, 1999: American Journal of Medical Genetics
A Amar, C Brautbar, U Motro, T Fisher, B Bonne-Tamir, S Israel
The allele frequency distributions of three STR loci amplified by PCR have been studied in four Israeli communities: Ashkenazi Jews and three non-Ashkenazi groups, namely Moroccan, Yemenite, and Ethiopian Jews. The loci analyzed were CSF1PO, TPOX, and HUMTHO1. The typing was performed in sequencing polyacrylamide gels under denaturing conditions that could separate alleles with differences of a single base. The population data were analyzed with respect to Hardy-Weinberg (H-W) equilibrium and found that all loci meet the H-W expectations...
September 1999: Journal of Forensic Sciences
S Israel, O J Kwon, N Weintrob, E Sprecher, K Bloch, S Assa, C Brautbar, P Vardi
The association between HLA-DR and DQ and insulin dependent diabetes mellitus (IDDM) was analyzed in 47 patients and 76 controls of Yemenite Jewish origin. The IDDM susceptibility alleles DRB1*03011, DQA1*0501, DQB1*02 and DRB1*0402, DQA1*0301, DQB1*0302 found in Caucasians had a very strong predisposing effect also in the Yemenite IDDM group. The DRB1*07, DQA1*0201 and DQB1*02 alleles were found to have a strong negative association with IDDM. None of the patients carried DRB1*07 and DQA1*0201 compared with healthy controls (43...
November 1998: Human Immunology
R B Bar-Sade, A Kruglikova, B Modan, E Gak, G Hirsh-Yechezkel, L Theodor, I Novikov, R Gershoni-Baruch, S Risel, M Z Papa, G Ben-Baruch, E Friedman
The 185delAG mutation in BRCA1 is detected in Ashkenazi Jews both in familial breast and ovarian cancer and in the general population. All tested Ashkenazi mutation carriers share the same allelic pattern at the BRCA1 locus. Our previous study showed that this 'Ashkenazi' mutation also occurs in Iraqi Jews with a similar allelic pattern. We extended our analysis to other non-Ashkenazi subsets: 354 of Moroccan origin, 200 Yemenites and 150 Iranian Jews. Heteroduplex analysis complemented by direct DNA sequencing of abnormally migrating bands were employed...
May 1998: Human Molecular Genetics
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