30 results match your criteria haplogroups jewish

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Middle eastern genetic legacy in the paternal and maternal gene pools of Chuetas.

Sci Rep 2020 12 8;10(1):21428. Epub 2020 Dec 8.

Institut Universitari d'Investigació en Ciències de la Salut (IUNICS) i Laboratori de Genètica, Departament de Biologia, Universitat de les Illes Balears, Carretera de Valldemossa, km 7.5, 07122, Palma de Mallorca, Illes Balears, Spain.

Chuetas are a group of descendants of Majorcan Crypto-Jews (Balearic Islands, Spain) who were socially stigmatized and segregated by their Majorcan neighbours until recently; generating a community that, although after the seventeenth century no longer contained Judaic religious elements, maintained strong group cohesion, Jewishness consciousness, and endogamy. Collective memory fixed 15 surnames as a most important defining element of Chueta families. Previous studies demonstrated Chuetas were a differentiated population, with a considerable proportion of their original genetic make-up. Read More

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December 2020

Polymorphisms of mitochondrial DNA control region are associated to endometriosis.

J Assist Reprod Genet 2018 Mar 9;35(3):533-538. Epub 2017 Nov 9.

Gynecologic Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

Purpose: Polymorphisms in the control region of mitochondrial DNA (mtDNA) can affect generation of reactive oxygen species and impact in the pathogenesis of endometriosis. This study investigated the association of mtDNA polymorphisms with endometriosis.

Methods: Patients were divided in two groups: endometriosis (n = 90) and control (n = 92). Read More

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Genetic Ancestry using Mitochondrial DNA in patients with Triple-negative breast cancer (GAMiT study).

Cancer 2017 Jan 1;123(1):107-113. Epub 2016 Sep 1.

Division of Medical Oncology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas.

Background: Triple-negative breast cancer (TNBC) lacks estrogen, progesterone, and human epidermal growth factor receptor 2 (HER2)/neu receptors, and is aggressive and therapeutically challenging. Genetic ancestry testing is an emerging medical field. Mitochondrial DNA (mtDNA), which is distinct from nuclear DNA, is maternally inherited and allows for origin determination. Read More

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January 2017

Genetic analysis of mitochondrial DNA control region variations in four tribes of Khyber Pakhtunkhwa, Pakistan.

Mitochondrial DNA A DNA Mapp Seq Anal 2017 09 27;28(5):687-697. Epub 2016 Apr 27.

e Instituto Nacional De Pesquisas Da Amazônia Av . André Araújo , Aleixo , Brazil.

Due to its geo strategic position at the crossroad of Asia, Pakistan has gained crucial importance of playing its pivotal role in subsequent human migratory events, both prehistoric and historic. This human movement became possible through an ancient overland network of trails called "The Silk Route" linking Asia Minor, Middle East China, Central Asia and Southeast Asia. This study was conducted to analyze complete mitochondrial control region samples of 100 individuals of four major Pashtun tribes namely, Bangash, Khattak, Mahsuds and Orakzai in the province of Khyber Pakhtunkhwa, Pakistan. Read More

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September 2017

Increased expression of ApoE and protection from amyloid-beta toxicity in transmitochondrial cybrids with haplogroup K mtDNA.

Neurobiol Dis 2016 09 22;93:64-77. Epub 2016 Apr 22.

Gavin Herbert Eye Institute, University of California Irvine, Irvine, CA, United States; Department of Pathology and Laboratory Medicine, University of California Irvine, Irvine, CA, United States. Electronic address:

Mitochondrial (mt) DNA haplogroups, defined by specific single nucleotide polymorphism (SNP) patterns, represent populations of diverse geographic origins and have been associated with increased risk or protection of many diseases. The H haplogroup is the most common European haplogroup while the K haplogroup is highly associated with the Ashkenazi Jewish population. Transmitochondrial cybrids (cell lines with identical nuclei, but mtDNA from either H (n=8) or K (n=8) subjects) were analyzed by the Seahorse flux analyzer, quantitative polymerase chain reaction (Q-PCR) and immunohistochemistry (IHC). Read More

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September 2016

Localizing Ashkenazic Jews to Primeval Villages in the Ancient Iranian Lands of Ashkenaz.

Genome Biol Evol 2016 Apr 19;8(4):1132-49. Epub 2016 Apr 19.

Department of Animal and Plant Sciences, University of Sheffield, Sheffield, UK

The Yiddish language is over 1,000 years old and incorporates German, Slavic, and Hebrew elements. The prevalent view claims Yiddish has a German origin, whereas the opposing view posits a Slavic origin with strong Iranian and weak Turkic substrata. One of the major difficulties in deciding between these hypotheses is the unknown geographical origin of Yiddish speaking Ashkenazic Jews (AJs). Read More

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Surnames and Y-chromosomal markers reveal low relationships in Southern Spain.

PLoS One 2015 10;10(4):e0123098. Epub 2015 Apr 10.

CNRS UMR 5288 Laboratoire d'Anthropologie Moléculaire et d'Imagerie de Synthèse (AMIS), Université Paul Sabatier Toulouse III, Toulouse, France.

A sample of 416 males from western and eastern Andalusia has been jointly analyzed for surnames and Y-chromosome haplogroups and haplotypes. The observed number of different surnames was 222 (353 when the second surname of the Spanish system of naming is considered). The great majority of recorded surnames have a Castilian-Leonese origin, while Catalan or Basque surnames have not been found. Read More

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December 2015

Portuguese crypto-Jews: the genetic heritage of a complex history.

Front Genet 2015 2;6:12. Epub 2015 Feb 2.

Institute of Molecular Pathology and Immunology of the University of Porto Porto, Portugal ; Faculty of Sciences, University of Porto Porto, Portugal ; Instituto de Investigaç ao e Inovaç ao em Saúde, Universidade do Porto Porto, Portugal.

The first documents mentioning Jewish people in Iberia are from the Visigothic period. It was also in this period that the first documented anti-Judaic persecution took place. Other episodes of persecution would happen again and again during the long troubled history of the Jewish people in Iberia and culminated with the Decrees of Expulsion and the establishment of the Inquisition: some Jews converted to Catholicism while others resisted and were forcedly baptized, becoming the first Iberian Crypto-Jews. Read More

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February 2015

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants.

Eur J Hum Genet 2015 May 30;23(5):693-9. Epub 2014 Jul 30.

Faculty of Sciences, Biology Department, University of Porto, Porto, Portugal.

The majority of genetic studies on Jewish populations have been focused on Ashkenazim, and genetic data from the Sephardic original source, the Iberian Peninsula, are particularly scarce. Regarding the mitochondrial genome, the available information is limited to a single Portuguese village, Belmonte, where just two different lineages (a single one corresponding to 93.3%) were found in 30 individuals. Read More

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Analysis of 22 Y chromosomal STR haplotypes and Y haplogroup distribution in Pathans of Pakistan.

Forensic Sci Int Genet 2014 Jul 15;11:111-6. Epub 2014 Mar 15.

Department of Forensic Medicine, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul 120-752, Republic of Korea. Electronic address:

We analyzed haplotypes for 22 Y chromosomal STRs (Y-STRs), including 17 Yfiler loci (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DY438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y-GATA-H4) and five additional STRs (DYS388, DYS446, DYS447, DYS449 and DYS464), and Y chromosomal haplogroup distribution in 270 unrelated individuals from the Pathans residing in the Federally Administered Tribal Areas and the North-West Frontier Province of Pakistan using in-house multiplex PCR systems. Each Y-STR showed diversities ranging from 0.2506 to 0. Read More

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The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Am J Med Genet A 2014 May 24;164A(5):1204-8. Epub 2014 Mar 24.

Laboratório de Imunohematologia e Hematologia Forense (LIM40), Departamento de Medicina Legal, Ética Médica e Medicina Social e do Trabalho, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Laron syndrome (LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) gene. The most frequent GHR mutation is E180splice (rs121909360), which was initially found in an inbred population of Spanish descent in Ecuador and subsequently in Israel, Brazil, Chile, and the United States. The aim of the present study is to determine if the E180splice mutation arose from a common origin. Read More

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Lemba origins revisited: tracing the ancestry of Y chromosomes in South African and Zimbabwean Lemba.

Himla Soodyall

S Afr Med J 2013 Oct 11;103(12 Suppl 1):1009-13. Epub 2013 Oct 11.

Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa.

Background: Previous historical, anthropological and genetic data provided overwhelming support for the Semitic origins of the Lemba, a Bantu-speaking people in southern Africa.

Objective: To revisit the question concerning genetic affinities between the Lemba and Jews.

Methods: Y-chromosome variation was examined in two Lemba groups: one from South Africa (SA) and, for the first time, a group from Zimbabwe (Remba), to re-evaluate the previously reported Jewish link. Read More

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October 2013

Linguistic isolates in Portugal: insights from the mitochondrial DNA pattern.

Forensic Sci Int Genet 2013 Dec 3;7(6):618-623. Epub 2013 Sep 3.

IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal. Electronic address:

Miranda do Douro, located in the northeastern region of Portugal, has notable characteristics not only from a geographic or naturalistic point of view, but also from a cultural perspective. A remarkable one is the coexistence of two different languages: Portuguese and Mirandese, the second being an Astur-Leonese dialect. The current persistence of the Astur-Leonese dialect in this population falls on the singularity of the region: relative isolation, implying difficulties to communicate with other Portuguese regions, while the same location facilitated the establishment of social and commercial relationships with adjacent Spanish territories, origin of the Astur-Leonese language. Read More

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December 2013

Y chromosome haplogroups and prostate cancer in populations of European and Ashkenazi Jewish ancestry.

Hum Genet 2012 Jul 24;131(7):1173-85. Epub 2012 Jan 24.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Genetic variation on the Y chromosome has not been convincingly implicated in prostate cancer risk. To comprehensively analyze the role of inherited Y chromosome variation in prostate cancer risk in individuals of European ancestry, we genotyped 34 binary Y chromosome markers in 3,995 prostate cancer cases and 3,815 control subjects drawn from four studies. In this set, we identified nominally significant association between a rare haplogroup, E1b1b1c, and prostate cancer in stage I (P = 0. Read More

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Increased resolution of Y chromosome haplogroup T defines relationships among populations of the Near East, Europe, and Africa.

Hum Biol 2011 Feb;83(1):39-53

ARL Division of Biotechnology, University of Arizona, Tucson, AZ 85721, USA.

Increasing phylogenetic resolution of the Y chromosome haplogroup tree has led to finer temporal and spatial resolution for studies of human migration. Haplogroup T, initially known as K2 and defined by mutation M70, is found at variable frequencies across West Asia, Africa, and Europe. While several SNPs were recently discovered that extended the length of the branch leading to haplogroup T, only two SNPs are known to mark internal branches of haplogroup T. Read More

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February 2011

The origin of Eastern European Jews revealed by autosomal, sex chromosomal and mtDNA polymorphisms.

Biol Direct 2010 Oct 6;5:57. Epub 2010 Oct 6.

Department of Haematology and Genetic Pathology, School of Medicine, Flinders University, Adelaide, Australia.

Background: This study aims to establish the likely origin of EEJ (Eastern European Jews) by genetic distance analysis of autosomal markers and haplogroups on the X and Y chromosomes and mtDNA.

Results: According to the autosomal polymorphisms the investigated Jewish populations do not share a common origin, and EEJ are closer to Italians in particular and to Europeans in general than to the other Jewish populations. The similarity of EEJ to Italians and Europeans is also supported by the X chromosomal haplogroups. Read More

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October 2010

Mitochondrial DNA reveals distinct evolutionary histories for Jewish populations in Yemen and Ethiopia.

Am J Phys Anthropol 2011 Jan;144(1):1-10

Department of Anthropology, University of Florida, Gainesville, FL 32611, USA.

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. Read More

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January 2011

Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood.

Hum Genet 2009 Nov 8;126(5):707-17. Epub 2009 Aug 8.

ARL Division of Biotechnology, University of Arizona, Tucson, AZ 85721, USA.

It has been known for over a decade that a majority of men who self report as members of the Jewish priesthood (Cohanim) carry a characteristic Y chromosome haplotype termed the Cohen Modal Haplotype (CMH). The CMH has since been used to trace putative Jewish ancestral origins of various populations. However, the limited number of binary and STR Y chromosome markers used previously did not provide the phylogenetic resolution needed to infer the number of independent paternal lineages that are encompassed within the Cohanim or their coalescence times. Read More

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November 2009

Parental diabetes status reveals association of mitochondrial DNA haplogroup J1 with type 2 diabetes.

BMC Med Genet 2009 Jun 18;10:60. Epub 2009 Jun 18.

Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Background: Although mitochondrial dysfunction is consistently manifested in patients with Type 2 Diabetes mellitus (T2DM), the association of mitochondrial DNA (mtDNA) sequence variants with T2DM varies among populations. These differences might stem from differing environmental influences among populations. However, other potentially important considerations emanate from the very nature of mitochondrial genetics, namely the notable high degree of partitioning in the distribution of human mtDNA variants among populations, as well as the interaction of mtDNA and nuclear DNA-encoded factors working in concert to govern mitochondrial function. Read More

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The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula.

Am J Hum Genet 2008 Dec;83(6):725-36

Department of Genetics, University of Leicester, Leicester, UK.

Most studies of European genetic diversity have focused on large-scale variation and interpretations based on events in prehistory, but migrations and invasions in historical times could also have had profound effects on the genetic landscape. The Iberian Peninsula provides a suitable region for examination of the demographic impact of such recent events, because its complex recent history has involved the long-term residence of two very different populations with distinct geographical origins and their own particular cultural and religious characteristics-North African Muslims and Sephardic Jews. To address this issue, we analyzed Y chromosome haplotypes, which provide the necessary phylogeographic resolution, in 1140 males from the Iberian Peninsula and Balearic Islands. Read More

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December 2008

Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J.

PLoS One 2008 16;3(10):e3425. Epub 2008 Oct 16.

Ruth & Bruce Rappaport Faculty of Medicine and Research Institute, Technion - Israel Institute of Technology, Haifa, Israel.

Background: Association of mitochondrial haplogroup J with longevity has been reported in several population subgroups. While studies from northern Italy and Finland, have described a higher frequency of haplogroup J among centenarians in comparison to non-centenarian, several other studies could not replicate these results and suggested various explanations for the discrepancy.

Methodology/principal Findings: We have evaluated haplogroup frequencies among Ashkenazi Jewish centenarians using two different sets of matched controls. Read More

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December 2008

Differences in mtDNA haplogroup distribution among 3 Jewish populations alter susceptibility to T2DM complications.

BMC Genomics 2008 Apr 29;9:198. Epub 2008 Apr 29.

Department of Life Sciences and National Institute of Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Background: Recent genome-wide association studies searching for candidate susceptibility loci for common complex diseases such as type 2 diabetes mellitus (T2DM) and its common complications have uncovered novel disease-associated genes. Nevertheless these large-scale population screens often overlook the tremendous variation in the mitochondrial genome (mtDNA) and its involvement in complex disorders.

Results: We have analyzed the mitochondrial DNA (mtDNA) genetic variability in Ashkenazi (Ash), Sephardic (Seph) and North African (NAF) Jewish populations (total n = 1179). Read More

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Ashkenazi Jewish mtDNA haplogroup distribution varies among distinct subpopulations: lessons of population substructure in a closed group.

Eur J Hum Genet 2007 Apr 24;15(4):498-500. Epub 2007 Jan 24.

Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

The quest for genes associated with diseases is widely recognized as an essential task in the effort to investigate the genetic basis of complex human disorders and traits. A basic stage in association studies is the careful choice of the model population, with preference to closed groups having little population substructure. Here, we show evidence for significant geographic substructure (P=0. Read More

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Mitochondrial DNA diversity in the Polish Roma.

Ann Hum Genet 2006 Mar;70(Pt 2):195-206

Institute of Biological Problems of the North, Russian Academy of Sciences, Portovaya str. 18, 685000 Magadan, Russia.

Mitochondrial DNA variability in the Polish Roma population has been studied by means of hypervariable segment I and II (HVS I and II) sequencing and restriction fragment-length polymorphism analysis of the mtDNA coding region. The mtDNA haplotypes detected in the Polish Roma fall into the common Eurasian mitochondrial haplogroups (H, U3, K, J1, X, I, W, and M*). The results of complete mtDNA sequencing clearly indicate that the Romani M*-lineage belongs to the Indian-specific haplogroup M5, which is characterized by three transitions in the coding region, at sites 12477, 3921 and 709. Read More

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Toward resolution of the debate regarding purported crypto-Jews in a Spanish-American population: evidence from the Y chromosome.

Ann Hum Biol 2006 Jan-Feb;33(1):100-11

Department of Anthropology, New York University, New York 10003, USA.

Background: The ethnic heritage of northernmost New Spain, including present-day northern New Mexico and southernmost Colorado, USA, is intensely debated. Local Spanish-American folkways and anecdotal narratives led to claims that the region was colonized primarily by secret- or crypto-Jews. Despite ethnographic criticisms, the notion of substantial crypto-Jewish ancestry among Spanish-Americans persists. Read More

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Reconstruction of patrilineages and matrilineages of Samaritans and other Israeli populations from Y-chromosome and mitochondrial DNA sequence variation.

Hum Mutat 2004 Sep;24(3):248-60

Stanford Genome Technology Center, Palo Alto, California 94305-5020, USA.

The Samaritan community, which numbered more than a million in late Roman times and only 146 in 1917, numbers today about 640 people representing four large families. They are culturally different from both Jewish and non-Jewish populations in the Middle East and their origin remains a question of great interest. Genetic differences between the Samaritans and neighboring Jewish and non-Jewish populations are corroborated in the present study of 7,280 bp of nonrecombining Y-chromosome and 5,622 bp of coding and hypervariable segment I (HVS-I) mitochondrial DNA (mtDNA) sequences. Read More

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September 2004

Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations.

Hum Genet 2004 Mar 22;114(4):354-65. Epub 2004 Jan 22.

Bruce Rappaport Faculty of Medicine and Research Institute, Technion and Rambam Medical Center, Haifa, Israel.

The molecular basis of more than 25 genetic diseases has been described in Ashkenazi Jewish populations. Most of these diseases are characterized by one or two major founder mutations that are present in the Ashkenazi population at elevated frequencies. One explanation for this preponderance of recessive diseases is accentuated genetic drift resulting from a series of dispersals to and within Europe, endogamy, and/or recent rapid population growth. Read More

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MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population.

Eur J Hum Genet 2004 May;12(5):355-64

Bruce Rappaport Faculty of Medicine and Research Institute, Technion and Rambam Medical Center, Haifa, Israel.

The relative roles of natural selection and accentuated genetic drift as explanations for the high frequency of more than 20 Ashkenazi Jewish disease alleles remain controversial. To test for the effects of a maternal bottleneck on the Ashkenazi Jewish population, we performed an extensive analysis of mitochondrial DNA (mtDNA) hypervariable segment 1 (HVS-1) sequence and restriction site polymorphisms in 565 Ashkenazi Jews from different parts of Europe. These patterns of variation were compared with those of five Near Eastern (n=327) and 10 host European (n=849) non-Jewish populations. Read More

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Y-chromosomal DNA variation in Pakistan.

Am J Hum Genet 2002 May 15;70(5):1107-24. Epub 2002 Mar 15.

Biomedical and Genetic Engineering Division, Dr. A. Q. Khan Research Laboratories, Islamabad, Pakistan.

Eighteen binary polymorphisms and 16 multiallelic, short-tandem-repeat (STR) loci from the nonrecombining portion of the human Y chromosome were typed in 718 male subjects belonging to 12 ethnic groups of Pakistan. These identified 11 stable haplogroups and 503 combination binary marker/STR haplotypes. Haplogroup frequencies were generally similar to those in neighboring geographical areas, and the Pakistani populations speaking a language isolate (the Burushos), a Dravidian language (the Brahui), or a Sino-Tibetan language (the Balti) resembled the Indo-European-speaking majority. Read More

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The Y chromosome pool of Jews as part of the genetic landscape of the Middle East.

Am J Hum Genet 2001 Nov 25;69(5):1095-112. Epub 2001 Sep 25.

Department of Hematology, Hebrew University-Hadassah Medical School, Jerusalem 91120, Israel.

A sample of 526 Y chromosomes representing six Middle Eastern populations (Ashkenazi, Sephardic, and Kurdish Jews from Israel; Muslim Kurds; Muslim Arabs from Israel and the Palestinian Authority Area; and Bedouin from the Negev) was analyzed for 13 binary polymorphisms and six microsatellite loci. The investigation of the genetic relationship among three Jewish communities revealed that Kurdish and Sephardic Jews were indistinguishable from one another, whereas both differed slightly, yet significantly, from Ashkenazi Jews. The differences among Ashkenazim may be a result of low-level gene flow from European populations and/or genetic drift during isolation. Read More

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November 2001
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