摘要
目的研究南方汉族人群KIR2DL4基因的遗传多态性。方法采用自行设计的PCR引物对306名南方汉族无关个体K豫2DL4框架基因的8个外显子进行扩增，之后进行双向测序，用Assign3．5软件分析各样本的等位基因型。对与国际IPD-KIR数据库不完全匹配的样本进行cDNA分子克隆和单倍型测序。结果共检出11种KIR2DL4等位基因，其中KIR2DL4＊00503、＊00504、＊032、＊033、＊034被WHOHLA因子命名委员会KIR分委会正式命名为新等位基因。检出的等位基因及其频率分别为KIR2DL4＊00102（75．5％）、＊00103（8．2％）、＊00501（34．0％）、＊00503（0．7％）、＊00504（0．7％）、＊00602（14．4％）、＊00801（11．4％）、＊011（22．2％）、＊032（0．3％）、＊033（0．3％）和＊034（0．3％）。第7外显子CDSnt811位置正常的10A型等位基因（KIR2DL4＊00102、＊00103、＊00501、＊00503、＊00504、＊00602、＊032、＊033、＊034）和CDSnt811位置缺失腺嘌呤的9A型等位基因（K琥2DL4＊00801、＊011）的检出比例分别为97．0％及33．0％，约为2．9：1。结论获得了南方汉族人群KIR2DL4等位基因分子遗传多态性的基础数据，可为移植、生殖免疫、疾病关联研究及人类进化等提供参考。
Objective To study the polymorphisms of the KIR2DL4 gene in a southern Han Chinese population. Methods Genomic DNA isolated from 306 unrelated individuals was amplified by using KIR2DL4-specific PCR primers. The PCR products were genotyped for the entire coding sequence by sequencing-based typing （SBT）. Assignment of allelic profile was accomplished with an Assign 3. 5 software. For samples with inconclusive SBT results, the RT-PCR products covering the entire coding sequence of theKIR2DL4 gene were subjected to cloning and haplotype sequencing. Results Among the 306 individuals, 11 alleles were detected, of which 5 novel alleles were officially named by the KIR subcommittee of the World Health Organization Nomenclature Committee for factors of HLA system. The observed frequencies for the 11 alleles were KIR2DL4 ＊ 00102 （75. 5%）, ＊ 00103 （8. 2%）,＊ 00501 （34. 0%）, ＊ 00503 （0.7%）, ＊ 00504 （0.7%）, ＊ 00602 （14.4%）, ＊ 00801 （11.4%）, ＊ 011 （22. 2%）, ＊ 032 （0.3%）, ＊ 033 （0. 3%） and ＊ 034 （0. 30//00）. The ratio of 10A type alleles including 2DL4 ＊ 00102, ~ 00103, ＊ 00501, ＊ 00503, ＊ 00504, ＊ 00602, ＊ 032, ＊ 033, ＊ 034 and 9A type alleles including 2DL4 ＊ 00801, ＊ 011 were 97. 0% and 33. 0%, respectively, with a ratio of 2.9 ： 1. Conclusion The allelie diversity of the KIR2DL4 gene in southern Han Chinese has been elucidated, which may provide valuable data for research on transplantation, reproductive immunity, KIR-associated disease and evolution.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2017年第2期270-274,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（81373158）
关键词
KIR2DL4框架基因
测序分型
新等位基因
EDNA
分子克隆
KIR2DL4 framework gene
Sequence-based typing
Novel allele
ComplementaryDNA
Cloning and haplotype sequencing
