中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2012年
2期
229-233
,共5页
张毅%庄云龙%聂向民%刘艳%宋永红%王光臣%朱传福
張毅%莊雲龍%聶嚮民%劉豔%宋永紅%王光臣%硃傳福
장의%장운룡%섭향민%류염%송영홍%왕광신%주전복
人类白细胞抗原%多态性%汉族%遗传距离
人類白細胞抗原%多態性%漢族%遺傳距離
인류백세포항원%다태성%한족%유전거리
Human leukocyte antigen%Polymorphism%Han population%Genetic distance
目的 分析山东省烟台和威海地区汉族人群人类白细胞抗原(human leukocyte antigen,HLA)-A、B、DRB1等位基因的多态性分布特征,并探讨该人群与其他人群的亲缘关系.方法 应用聚合酶链反应-序列特异性寡核苷酸探针方法(polymerase chain reaction-sequence specific olignucleotide probe,PCR-SSOP)对山东省烟台和威海地区4062名无亲缘关系的汉族健康个体进行HLA-A、B、DRB1基因分型.采用Arlequin3.5软件计算HLA等位基因频率、单倍型频率和连锁不平衡参数,按内氏公式计算出不同人群之间的遗传距离,并利用Mega5.0软件构建系统发生树.结果 该人群HLA-A、B、DRB1等位基因分布均符合Hardy-Weinberg平衡(P＞0.1).3个基因座分别检出18、33和13个等位基因,其中等位基因频率分布最高的分别是A* 02 (0.2935)、B* 15 (0.1485)和DRB1* 15 (0.1621);最常见的单倍型为A* 30-B* 13-DRB1* 07(0.0649),A* 33-B* 58、A*66-DRB1* 13、B*08-DRB1* 03呈现最强的连锁不平衡；山东省烟台和威海汉族人群与吉林省汉族人群遗传距离最小,为0.0034.结论 山东省烟台和威海地区汉族人群HLA-A、B、DRB1等位基因和单倍型具有较高的遗传多态性,该人群与吉林汉族人群亲缘关系最近.
目的 分析山東省煙檯和威海地區漢族人群人類白細胞抗原(human leukocyte antigen,HLA)-A、B、DRB1等位基因的多態性分佈特徵,併探討該人群與其他人群的親緣關繫.方法 應用聚閤酶鏈反應-序列特異性寡覈苷痠探針方法(polymerase chain reaction-sequence specific olignucleotide probe,PCR-SSOP)對山東省煙檯和威海地區4062名無親緣關繫的漢族健康箇體進行HLA-A、B、DRB1基因分型.採用Arlequin3.5軟件計算HLA等位基因頻率、單倍型頻率和連鎖不平衡參數,按內氏公式計算齣不同人群之間的遺傳距離,併利用Mega5.0軟件構建繫統髮生樹.結果 該人群HLA-A、B、DRB1等位基因分佈均符閤Hardy-Weinberg平衡(P＞0.1).3箇基因座分彆檢齣18、33和13箇等位基因,其中等位基因頻率分佈最高的分彆是A* 02 (0.2935)、B* 15 (0.1485)和DRB1* 15 (0.1621);最常見的單倍型為A* 30-B* 13-DRB1* 07(0.0649),A* 33-B* 58、A*66-DRB1* 13、B*08-DRB1* 03呈現最彊的連鎖不平衡；山東省煙檯和威海漢族人群與吉林省漢族人群遺傳距離最小,為0.0034.結論 山東省煙檯和威海地區漢族人群HLA-A、B、DRB1等位基因和單倍型具有較高的遺傳多態性,該人群與吉林漢族人群親緣關繫最近.
목적 분석산동성연태화위해지구한족인군인류백세포항원(human leukocyte antigen,HLA)-A、B、DRB1등위기인적다태성분포특정,병탐토해인군여기타인군적친연관계.방법 응용취합매련반응-서렬특이성과핵감산탐침방법(polymerase chain reaction-sequence specific olignucleotide probe,PCR-SSOP)대산동성연태화위해지구4062명무친연관계적한족건강개체진행HLA-A、B、DRB1기인분형.채용Arlequin3.5연건계산HLA등위기인빈솔、단배형빈솔화련쇄불평형삼수,안내씨공식계산출불동인군지간적유전거리,병이용Mega5.0연건구건계통발생수.결과 해인군HLA-A、B、DRB1등위기인분포균부합Hardy-Weinberg평형(P＞0.1).3개기인좌분별검출18、33화13개등위기인,기중등위기인빈솔분포최고적분별시A* 02 (0.2935)、B* 15 (0.1485)화DRB1* 15 (0.1621);최상견적단배형위A* 30-B* 13-DRB1* 07(0.0649),A* 33-B* 58、A*66-DRB1* 13、B*08-DRB1* 03정현최강적련쇄불평형；산동성연태화위해한족인군여길림성한족인군유전거리최소,위0.0034.결론 산동성연태화위해지구한족인군HLA-A、B、DRB1등위기인화단배형구유교고적유전다태성,해인군여길림한족인군친연관계최근.
Objective To investigate allelic and haplotypic polymorphisms of human leukocyte antigen (HLA) genes at A,B and DRB1 loci in Yantai and Weihai Han population and analyze the genetic relationship between Yantai,Weihai Han population and other populations.Methods A total of 4062 unrelated Han ethnic individual from Yantai and Weihai regions were genotyped by polymerase chain reaction-sequence specific olignucleotide probe (PCR-SSOP) for HLA-A,B and DRB1 loci. Allelic and haplotypic frequencies were estimated by maximum likelihood estimation method using Arlequin 3.5software.Genetic distances were computed,and phylogenetic tree was constructed using Mega5.0 software.Results Respectively 18,33 and 13 alleles were observed at HLA-A,B and DRB1 loci.The most frequent alleles were HLA-A* 02(0.2935),HLA-B * 15(0.1485) and HLA-DRB1 * 15(0.1621).And the most common three loci haplotype was A * 30 B * 13 DRB1 * 07(0.0649).A * 33-B * 58,A * 66-DRB1 * 13 and B * 08-DRB1 * 03 showed the strongest linkage disequilibrium.Yantai and Weihai Han population has the shortest genetic distance with Jilin Han population (0.0034).Conclusion The HLA-A,B and DRB1 loci are highly polymorphic in Han population from Yantai and Weihai,and this population has closest relationship with Han population from Jilin province.
