CAJ | 학술논문

目的研究福建地区汉族群体Penta E基因座的遗传多态性并对出现的稀有等位基因进行分析,探讨该基因座的遗传学应用价值.方法采用聚合酶链反应-短串联重复序列技术对851名福建汉族无关个体进行Penta E基因座多态性分析,测定稀有等位基因的DNA序列,并统计分析494个亲权鉴定案例(共计674次减数分裂)中Penta E基因座的突变情况.结果在851名福建汉族无关个体中,共发现Penta E基因座的26个等位基因,基因频率范围为0.0006～0.1528;共检出7个稀有等位基因,并首次获得稀有等位基因28.4的DNA序列[AAAGA]29.统计福建汉族群体Penta E基因座的遗传学参数,其中多态信息含量为0.91,非父排除率为0.817,个体识别率为0.986及突变率为0.0015.结论福建汉族群体的Penta E基因座具有高度的多态性及较低的突变率,具有良好的遗传学应用前景.DNA测序技术对稀有等位基因的确认及命名具有重要的价值.
목적 연구복건지구한족군체Penta E기인좌적유전다태성병대출현적희유등위기인진행분석,탐토해기인좌적유전학응용개치.방법 채용취합매련반응-단천련중복서렬기술대851명복건한족무관개체진행Penta E기인좌다태성분석,측정희유등위기인적DNA서렬,병통계분석494개친권감정안례(공계674차감수분렬)중Penta E기인좌적돌변정황.결과 재851명복건한족무관개체중,공발현Penta E기인좌적26개등위기인,기인빈솔범위위0.0006～0.1528;공검출7개희유등위기인,병수차획득희유등위기인28.4적DNA서렬[AAAGA]29.통계복건한족군체Penta E기인좌적유전학삼수,기중다태신식함량위0.91,비부배제솔위0.817,개체식별솔위0.986급돌변솔위0.0015.결론 복건한족군체적Penta E기인좌구유고도적다태성급교저적돌변솔,구유량호적유전학응용전경.DNA측서기술대희유등위기인적학인급명명구유중요적개치.
Objective To study the genetic polymorphisms of Penta E locus in Fujian Han population.Methods Polymorphisms of the Penta E locus in 851 unrelated individuals were analyzed using polymerase chain reaction-short tandem repeat (PCR-STR).The mutation rate of rare alleles was analyzed in 494 paternity identification cases (in a total of 674 meiosis).Results Twenty-six alleles were identified for the Penta E locus, with their frequencies ranging from 0.0006 to 0.1528.There were 7 rare alleles, among which Penta E-28.4 ([AAAGA]29) was identified for the first time.Genetic parameters of the Penta E locus in Fujian Han population were obtained, including PIC =0.91, PE =0.817, PD=0.986, and mutation rate=0.0015.Conclusion The Penta E locus is highly polymorphic and has a low mutation rate in Fujian Han population.It also has a good prospect in genetics applications.DNA sequencing is a good method for identifying rare alleles.