АвторТема: Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic ...  (Прочитано 1784 раз)

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Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation.

    Ramūnas Janavičiusa, b, Corresponding author contact information, E-mail the corresponding author,
    Vilius Rudaitisc, d,
    Bing-Jian Fenge,
    Silvija Ozolinaf,
    Laimonas Griškevičiusa, c,
    David Goldgare,
    Laima Tihomirovaf

Abstract

Uncertainty exists about the origin of BRCA1 c.4035delA mutation which is prevalent in Baltic countries, with the highest frequency being in Lithuania (53% of all BRCA1 mutations), although formal founder mutation analysis by haplotype has not yet been undertaken. In this study we genotyped 78 unrelated BRCA1 c.4035delA mutation carriers families from Lithuania, Latvia, Poland and Russia. The results from the haplotype analyses were used to estimate the age of the mutation. Using maximum likelihood methods we estimated that the mutation arose approximately 1550 years (62 generations of 25 years) ago (ca. 5th century) somewhere in the present territory of Lithuania, in the area inhabited by ancient Baltic tribes at that time. Our results show that this mutation gradually entered the gene pool in the neighbouring countries.

http://www.sciencedirect.com/science/article/pii/S1769721212003370

 

© 2007 Молекулярная Генеалогия (МолГен)

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