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Haplotype analysis ...
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations
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Laitman, Yael (författare)
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Feng, Bing-Jian (författare)
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- Zamir, Itay M (författare)
- The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel
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Weitzel, Jeffrey N (författare)
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Duncan, Paul (författare)
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Port, Danielle (författare)
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Thirthagiri, Eswary (författare)
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Teo, Soo-Hwang (författare)
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Evans, Gareth (författare)
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Latif, Ayse (författare)
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Newman, William G (författare)
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Gershoni-Baruch, Ruth (författare)
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Zidan, Jamal (författare)
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Shimon-Paluch, Shani (författare)
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Goldgar, David (författare)
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Friedman, Eitan (författare)
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(creator_code:org_t)
- 2012-07-04
- 2013
- Engelska.
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Ingår i: European Journal of Human Genetics. - London : Nature Publishing Group. - 1018-4813 .- 1476-5438. ; 21:2, s. 212-216
- Relaterad länk:
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- 185delAG BRCA1 mutation
- founder mutation
- haplotype
- Conversos
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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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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visa fler...
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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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visa färre...
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