Literature DB >> 15228193

844ins68 in the cystathionine beta-synthase gene in Israel and review of its distribution in the world.

Avshalom Zoossmann-Diskin1, Efraim Gazit, Leah Peleg, Mordechai Shohat, David Turner.   

Abstract

The 844ins68 allele in the cystathionine beta-synthase gene is always found in cis with the T833C mutation further indicating that its origin is monophyletic and that it might be a useful anthropogenetic marker. Its frequency was examined in 1087 randomly chosen subjects from Israel (twelve Jewish communities and Palestinians), and found to range from 0.034 to 0.125. The heterogeneity among the Jewish communities spans most of the range encountered among Caucasoid populations and is in accordance both with other genetic markers examined in the Jewish communities and with genetic distance and discriminant analyses. 844ins68 cannot distinguish between various European regions, because of the marked heterogeneity of the allele frequency distribution in Europe. This distribution of the insertion does not follow a recognised pattern of any known colonisation process. Its use as a reliable anthropogenetic marker discriminating between the major human groups may also be problematic until more populations are sampled.

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Year:  2004        PMID: 15228193

Source DB:  PubMed          Journal:  Anthropol Anz        ISSN: 0003-5548


  3 in total

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

Authors:  Avshalom Zoossmann-Diskin
Journal:  Biol Direct       Date:  2010-10-06       Impact factor: 4.540

2.  Frequency of cystathionine beta-synthase 844INS68 polymorphism in Southern Iran.

Authors:  Sara Senemar; Mehrnoosh Doroudchi; Abdul Mohammad Pezeshki; Masood Bazrgar; Ardeshir Torab-Jahromi; Abbas Ghaderi
Journal:  Mol Biol Rep       Date:  2007-11-29       Impact factor: 2.316

3.  Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Authors:  Petr Vyletal; Jitka Sokolová; David N Cooper; Jan P Kraus; Michael Krawczak; Guglielmina Pepe; Olga Rickards; Hans G Koch; Michael Linnebank; Leo A J Kluijtmans; Henk J Blom; Godfried H J Boers; Mette Gaustadnes; Flemming Skovby; Bridget Wilcken; David E L Wilcken; Generoso Andria; Gianfranco Sebastio; Eileen R Naughten; Sufin Yap; Toshihiro Ohura; Ewa Pronicka; Aranka Laszlo; Viktor Kozich
Journal:  Hum Mutat       Date:  2007-03       Impact factor: 4.878

  3 in total

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