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
2008
发表期刊Journal of Human Genetics
通讯作者邮箱yuasai@med.tottori-u.ac.jp
卷号53期号:11-12页码:1016–1021
产权排序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
DOI10.1007/s10038-008-0337-4
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收录类别SCI
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被引频次:9[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
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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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