title: Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific.
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.
authors.affiliation: Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, 683-8503, Japan. yuasai@med.tottori-u.ac.jp.
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.affiliation: Department of Pathobiological Science and Technology, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Mayumi
authors.initials: M
authors.lastname: Nakagawa
authors.affiliation: Department of Experimental and Forensic Pathology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Umetsu
authors.affiliation: Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Harihara
authors.affiliation: Department of Forensic Medicine, Fukuoka University School of Medicine, Fukuoka, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Matsusue
authors.affiliation: Division of Legal Medicine, Ehime University School of Medicine, Ehime, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Nishimukai
authors.affiliation: Osaka Red Cross Blood Center, Osaka, Japan.
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Fukumori
authors.affiliation: Division of Population Genetics, National Institute of Genetics, Mishima, Japan.
authors.forename: Naruya
authors.initials: N
authors.lastname: Saitou
authors.affiliation: Department of Biology, Sungshin Women's University, Seoul, South Korea.
authors.forename: Kyung Sook
authors.initials: KS
authors.lastname: Park
authors.affiliation: Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Jin
authors.affiliation: Center of Molecular Neurogenetics, Paris, France.
authors.forename: Gérard
authors.initials: G
authors.lastname: Lucotte
authors.affiliation: Amity Institute of Forensic Sciences, Defence Colony, New Delhi, India.
authors.forename: Prasanta K
authors.initials: PK
authors.lastname: Chattopadhyay
authors.affiliation: Institut für Blutgruppenforschung, Cologne, Germany.
authors.forename: Lotte
authors.initials: L
authors.lastname: Henke
authors.affiliation: Institut für Blutgruppenforschung, Cologne, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Henke
mesh_terms: D000483:Alleles; D017244:Complement Factor I / Q000235:genetics*; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007564:Japan; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D017244:Complement Factor I