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Haplotype analysis ...
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations
- Article/chapterEnglish2013
Publisher, publication year, extent ...
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2012-07-04
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London :Nature Publishing Group,2013
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-142322
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-142322URI
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https://doi.org/10.1038/ejhg.2012.124DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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The 185delAG* BRCA1 mutation is encountered primarily in Jewish Ashkenazi and Iraqi individuals, and sporadically in non-Jews. Previous studies estimated that this is a founder mutation in Jewish mutation carriers that arose before the dispersion of Jews in the Diaspora ~2500 years ago. The aim of this study was to assess the haplotype in ethnically diverse 185delAG* BRCA1 mutation carriers, and to estimate the age at which the mutation arose. Ethnically diverse Jewish and non-Jewish 185delAG*BRCA1 mutation carriers and their relatives were genotyped using 15 microsatellite markers and three SNPs spanning 12.5 MB, encompassing the BRCA1 gene locus. Estimation of mutation age was based on a subset of 11 markers spanning a region of ~5 MB, using a previously developed algorithm applying the maximum likelihood method. Overall, 188 participants (154 carriers and 34 noncarriers) from 115 families were included: Ashkenazi, Iraq, Kuchin-Indians, Syria, Turkey, Iran, Tunisia, Bulgaria, non-Jewish English, non-Jewish Malaysian, and Hispanics. Haplotype analysis indicated that the 185delAG mutation arose 750-1500 years ago. In Ashkenazim, it is a founder mutation that arose 61 generations ago, and with a small group of founder mutations was introduced into the Hispanic population (conversos) ~650 years ago, and into the Iraqi-Jewish community ~450 years ago. The 185delAG mutation in the non-Jewish populations in Malaysia and the UK arose at least twice independently. We conclude that the 185delAG* BRCA1 mutation resides on a common haplotype among Ashkenazi Jews, and arose about 61 generations ago and arose independently at least twice in non-Jews.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Feng, Bing-Jian
(author)
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Zamir, Itay MThe Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel(Swepub:umu)itza0002
(author)
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Weitzel, Jeffrey N
(author)
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Duncan, Paul
(author)
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Port, Danielle
(author)
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Thirthagiri, Eswary
(author)
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Teo, Soo-Hwang
(author)
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Evans, Gareth
(author)
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Latif, Ayse
(author)
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Newman, William G
(author)
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Gershoni-Baruch, Ruth
(author)
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Zidan, Jamal
(author)
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Shimon-Paluch, Shani
(author)
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Goldgar, David
(author)
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Friedman, Eitan
(author)
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The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel
(creator_code:org_t)
Related titles
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In:European Journal of Human GeneticsLondon : Nature Publishing Group21:2, s. 212-2161018-48131476-5438
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Laitman, Yael
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Feng, Bing-Jian
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Zamir, Itay M
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Weitzel, Jeffrey ...
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Duncan, Paul
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Port, Danielle
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Thirthagiri, Esw ...
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Teo, Soo-Hwang
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Evans, Gareth
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Latif, Ayse
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Newman, William ...
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Gershoni-Baruch, ...
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Zidan, Jamal
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Shimon-Paluch, S ...
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Goldgar, David
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Friedman, Eitan
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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Umeå University