Molecular basis of complement factor I (CFI) polymorphism: One of two polymorphic suballeles responsible for CFI A is Japanese-specific.

doi:10.1007/s10038-008-0337-4

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	Molecular basis of complement factor I (CFI) polymorphism: One of two polymorphic suballeles responsible for CFI A is Japanese-specific.
	Yuasa I; Nakagawa M; Umetsu K; Chattopadhyay PK; Henke L; Henke J.; Harihara S; Matsusue A; Nishimukai H; Fukumori Y; Saitou N; Park KS; Jin F(金锋); Lucotte G; I. Yuasa
通讯作者邮箱	yuasai@med.tottori-u.ac.jp
心理所单位排序	10
摘要	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.
关键词	Complement factor I Molecular basis Molecular basis Polymorphism Population study
学科领域	医学心理学
	2008
DOI	10.1007/s10038-008-0337-4
发表期刊	Journal of Human Genetics
卷号	53 期号:11-12 页码:1016–1021
URL	查看原文
收录类别	SCI
引用统计	被引频次：11[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	http://ir.psych.ac.cn/handle/311026/10050
专题	中国科学院心理研究所回溯数据库(1956-2010)
通讯作者	I. Yuasa
推荐引用方式 GB/T 7714	Yuasa I,Nakagawa M,Umetsu K,et al. Molecular basis of complement factor I (CFI) polymorphism: One of two polymorphic suballeles responsible for CFI A is Japanese-specific.[J]. Journal of Human Genetics,2008,53(11-12):1016–1021.
APA	Yuasa I.,Nakagawa M.,Umetsu K.,Chattopadhyay PK.,Henke L.,...&I. Yuasa.(2008).Molecular basis of complement factor I (CFI) polymorphism: One of two polymorphic suballeles responsible for CFI A is Japanese-specific..Journal of Human Genetics,53(11-12),1016–1021.
MLA	Yuasa I,et al."Molecular basis of complement factor I (CFI) polymorphism: One of two polymorphic suballeles responsible for CFI A is Japanese-specific.".Journal of Human Genetics 53.11-12(2008):1016–1021.

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