| Literature DB >> 18825487 |
Isao Yuasa1, Mayumi Nakagawa2, Kazuo Umetsu3, Shinji Harihara4, Aya Matsusue5, Hiroaki Nishimukai6, Yasuo Fukumori7, Naruya Saitou8, Kyung Sook Park9, Feng Jin10, Gérard Lucotte11, Prasanta K Chattopadhyay12, Lotte Henke13, Jürgen Henke13.
Abstract
Isoelectric focusing has revealed that human complement factor I (CFI) is controlled by two polymorphic alleles, CFI(*)A and CFI(*)B, and a few rare variant alleles. In this study the molecular basis of the CFI polymorphism was investigated in 174 Japanese. The CFI(*)A was divided into two suballeles, CFI(*)As (R201S) and CFI(*)Ah (R406H). CFI(*)Aj, a rare variant allele originating from CFI(*)Ah, had an additional mutation (R502L). The distribution of these three mutations and two registered SNPs was investigated in a total of 2,471 individuals in 20 populations from various areas, and six haplotypes were observed. Haplotype H3, which is characterized by CFI(*)As, was found only in Far East populations: the frequencies were about 0.03 in the main island of Japan and lower than 0.01 in Okinawa and Korea. Haplotype H5, characterized by CFI(*)Ah, prevailed almost exclusively in East Asians and was observed at the highest frequencies in southern Chinese Han and Thais. CFI(*)Ah must have arisen in a southeastern part of Asia and thereafter have spread to neighboring populations.Entities:
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Year: 2008 PMID： 18825487 DOI： 10.1007/s10038-008-0337-4
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172