Founder Haplotype Analysis of Fanconi Anemia in the Korean Population Finds Common Ancestral Haplotypes for a FANCG Variant. (20th February 2015)

• Record Type: Journal Article
• Authors: Park, Joonhong; Kim, Myungshin; Jang, Woori; Chae, Hyojin; Kim, Yonggoo; Chung, Nack‐Gyun; Lee, Jae‐Wook; Cho, Bin; Jeong, Dae‐Chul; Park, In Yang; Park, Mi Sun
• Is Part Of: Annals of human genetics. Volume 79:Number 3(2015:May)
• Page Start: 153
• Page End: 161
• Publication Date: 2015-02-20
• Subjects: Human genetics -- Periodicals; 599.935
• DOI: 10.1111/ahg.12097
• Languages: English
• ISSNs: 0003-4800

Abstract

<abstract abstract-type="main"> <title>Summary</title> <p>A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi anemia (FA), because common mutations have been frequently found: c.2546delC and c.3720_3724delAAACA of <italic>FANCA</italic>; c.307+1G>C, c.1066C>T, and c.1589_1591delATA of <italic>FANCG</italic>. Our aim in this study was to investigate the origin of these common mutations of <italic>FANCA</italic> and <italic>FANCG</italic>. We genotyped 13 FA patients consisting of five FA‐A patients and eight FA‐G patients from the Korean FA population. Microsatellite markers used for haplotype analysis included four CA repeat markers which are closely linked with <italic>FANCA</italic> and eight CA repeat markers which are contiguous with <italic>FANCG</italic>. As a result, Korean FA‐A patients carrying c.2546delC or c.3720_3724delAAACA did not share the same haplotypes. However, three unique haplotypes carrying c.307+1G>C, c.1066C > T, or c.1589_1591delATA, that consisted of eight polymorphic loci covering a flanking region were strongly associated with Korean FA‐G, consistent with founder haplotypes reported previously in the Japanese FA‐G population. Our finding confirmed the common ancestral haplotypes on the origins of the East Asian FA‐G patients, which will improve our understanding of the molecular population genetics of FA‐G. To the best of our knowledge, this is the first report on the association between disease‐linked mutations and common ancestral haplotypes in the Korean FA population.</p> </abstract>