title: A hypervariable STR polymorphism in the CFI gene: southern origin of East Asian-specific group H alleles.
abstract: Previous studies of four populations revealed that a hypervariable short tandem repeat (iSTR) in intron 7 of the human complement factor I (CFI) gene on chromosome 4q was unique, with 17 possible East Asian-specific group H alleles observed at relatively high frequencies. To develop a deeper anthropological and forensic understanding of iSTR, 1161 additional individuals from 11 Asian populations were investigated. Group H alleles of iSTR and c.1217A allele of a SNP in exon 11 of the CFI gene were associated with each other and were almost entirely confined to East Asian populations. Han Chinese in Changsha, southern China, showed the highest frequency for East Asian-specific group H alleles (0.201) among 15 populations. Group H alleles were observed to decrease gradually from south to north in 11 East Asian populations. This expansion of group H alleles provides evidence that southern China and Southeast Asia are a hotspot of Asian diversity and a genetic reservoir of Asians after they entered East Asia. The expected heterozygosity values of iSTR ranged from 0.927 in Thais to 0.874 in Oroqens, higher than those of an STR in the fibrinogen alpha chain (FGA) gene on chromosome 4q. Thus, iSTR is a useful marker for anthropological and forensic genetics.
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.forename: Feng
authors.initials: F
authors.lastname: Jin
authors.forename: Shinji
authors.initials: S
authors.lastname: Harihara
authors.forename: Aya
authors.initials: A
authors.lastname: Matsusue
authors.forename: Junko
authors.initials: J
authors.lastname: Fujihara
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
authors.forename: Atsushi
authors.initials: A
authors.lastname: Akane
authors.forename: Kazuo
authors.initials: K
authors.lastname: Umetsu
authors.forename: Naruya
authors.initials: N
authors.lastname: Saitou
authors.forename: Prasanta K
authors.initials: PK
authors.lastname: Chattopadhyay
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D017244:Complement Factor I / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005202:Asia, Eastern; D018732:Forensic Anthropology / Q000379:methods*; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D007438:Introns / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D017244:Complement Factor I
keywords: Asian-specific; Complement factor I; Geographic distribution; Short tandem repeat (STR); Single-nucleotide polymorphism (SNP)