Molecular basis of complement factor I (CFI) polymorphism: One of two polymorphic suballeles responsible for CFI A is Japanese-specific.
文献类型：期刊论文
| 作者 | Jin F(金锋)
|
| 刊名 | Journal of Human Genetics
 |
| 出版日期 | 2008 |
| 卷号 | 53期号:11-12页码:1016–1021 |
| 通讯作者邮箱 | yuasai@med.tottori-u.ac.jp |
| 关键词 | Complement factor I Molecular basis Molecular basis Polymorphism Population study |
| 产权排序 | 10 |
| 通讯作者 | I. Yuasa |
| 合作状况 | 国际 |
| 英文摘要 | 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. |
| 学科主题 | 医学心理学 |
| 收录类别 | SCI |
| 原文出处 | http://www.ncbi.nlm.nih.gov/pubmed/18825487 |
| 公开日期 | 2014-06-05 |
| 源URL | [http://ir.psych.ac.cn/handle/311026/10050]  |
| 专题 | 心理研究所_中国科学院心理研究所回溯数据库(1956-2010) |
| 推荐引用方式 GB/T 7714 | Jin F. 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 | Jin F.(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 | Jin F."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. |
入库方式： OAI收割
来源：心理研究所
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