中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
3期
410-414
,共5页
百茹峰%刘亚举%姜立喆%吕小娇%石美森
百茹峰%劉亞舉%薑立喆%呂小嬌%石美森
백여봉%류아거%강립철%려소교%석미삼
插入缺失多态性%遗传多态性%藏族
插入缺失多態性%遺傳多態性%藏族
삽입결실다태성%유전다태성%장족
Insertion and deletion polymorphisms%Genetic diversity%Ethnic Tibetan
目的 调查Investigator(R) DIPplex试剂盒中所包含的30个插入缺失多态性(insertion and deletion polymorphism,InDel)位点在西藏藏族人群中的群体遗传学数据,探讨其法医学应用价值.方法 应用Investigator(R) DIPplex试剂盒对西藏地区226名藏族无关个体外周血样进行30个InDel位点分型检测,统计分析各位点的频率数据、群体遗传学参数,并与其他地区人群已有数据进行比较.结果 经Bonferroni修正,除HLD114外,29个InDel位点基因型分布在藏族群体中符合Hardy-Weinberg平衡定律;各位点不存在连锁不平衡现象.各位点平均杂合度为0.4125,平均个体识别率为0.5618,平均多态信息含量为0.3280,累积个体识别率为0.999 999 999 990;30个Indel位点的三联体累积非父排除率为0.987 849 91,二联体累积非父排除率为0.949 771 25.藏族与北京汉族的遗传距离最小(0.0068),与新疆维吾尔族遗传距离最大(0.0215).结论 Investigator(R) DIPplex试剂盒中包含的30个InDel位点在西藏藏族群体中具有较好的遗传多态性.
目的 調查Investigator(R) DIPplex試劑盒中所包含的30箇插入缺失多態性(insertion and deletion polymorphism,InDel)位點在西藏藏族人群中的群體遺傳學數據,探討其法醫學應用價值.方法 應用Investigator(R) DIPplex試劑盒對西藏地區226名藏族無關箇體外週血樣進行30箇InDel位點分型檢測,統計分析各位點的頻率數據、群體遺傳學參數,併與其他地區人群已有數據進行比較.結果 經Bonferroni脩正,除HLD114外,29箇InDel位點基因型分佈在藏族群體中符閤Hardy-Weinberg平衡定律;各位點不存在連鎖不平衡現象.各位點平均雜閤度為0.4125,平均箇體識彆率為0.5618,平均多態信息含量為0.3280,纍積箇體識彆率為0.999 999 999 990;30箇Indel位點的三聯體纍積非父排除率為0.987 849 91,二聯體纍積非父排除率為0.949 771 25.藏族與北京漢族的遺傳距離最小(0.0068),與新疆維吾爾族遺傳距離最大(0.0215).結論 Investigator(R) DIPplex試劑盒中包含的30箇InDel位點在西藏藏族群體中具有較好的遺傳多態性.
목적 조사Investigator(R) DIPplex시제합중소포함적30개삽입결실다태성(insertion and deletion polymorphism,InDel)위점재서장장족인군중적군체유전학수거,탐토기법의학응용개치.방법 응용Investigator(R) DIPplex시제합대서장지구226명장족무관개체외주혈양진행30개InDel위점분형검측,통계분석각위점적빈솔수거、군체유전학삼수,병여기타지구인군이유수거진행비교.결과 경Bonferroni수정,제HLD114외,29개InDel위점기인형분포재장족군체중부합Hardy-Weinberg평형정률;각위점불존재련쇄불평형현상.각위점평균잡합도위0.4125,평균개체식별솔위0.5618,평균다태신식함량위0.3280,루적개체식별솔위0.999 999 999 990;30개Indel위점적삼련체루적비부배제솔위0.987 849 91,이련체루적비부배제솔위0.949 771 25.장족여북경한족적유전거리최소(0.0068),여신강유오이족유전거리최대(0.0215).결론 Investigator(R) DIPplex시제합중포함적30개InDel위점재서장장족군체중구유교호적유전다태성.
Objective To analyze the genetic data of 30 insertion and deletion polymorphisms (InDel) loci included in an Investigator（R） DIPplex diagnostic kit,and to evaluate the forensic application in ethnic Tibetan population from China.Methods By detecting 226 unrelated individuals with the Investigator(R) DIPplex kit,allelic frequencies and population genetics parameters of the 30 InDels were statistically analyzed and compared with available data derived from other populations from various regions.Results After the Bonferroni correction at a 95％ significance level (P=0.0017),no significant departures from the Hardy-Weinberg equilibrium were observed except for the HLD114 locus.Linkage disequilibrium test showed no significant allelic association between all 30 loci after the Bonferroni's correction.The average heterozygosity (Ho) of all loci was 0.4125,the mean discrimination power (DP) was 0.5618,the mean polymorphism information content (PIC) was 0.3280,and the combined discrimination power (TDP) was 0.999 999 999 990.The combined power of exclusion of all loci was 0.987 849 91 in trio cases and 0.949 771 25 in duo cases.Genetic distance between Tibetan and Han from Beijing was minimum (0.0068) in the 5 populations,while genetic distance between Tibetan and Uygur was maximal (0.0215).Conclusion Multiplex detection has revealed that these 30 InDel loci have a moderate distribution of genetic polymorphism among ethnic Tibetan group residing in Tibet,China.
