CAJ | 학술논문

目的：检测X染色体上16个STR基因座的连锁不平衡情况，并对其遗传稳定性进行调查。方法从华东汉族群体选取女性无关个体500名、家系885个，提取血样DNA，利用自主研发的IDtyperX-16试剂盒对16个X-STR基因座进行多重PCR扩增和毛细管电泳分型，使用PowerMarker v3.25软件对基因座进行连锁不平衡检验，并分析各个基因座的突变率。结果16个X-STR基因座彼此之间不存在连锁不平衡现象；有10个基因座检见突变，其中DXS6809和DXS7132的突变率均高达0.0048。结论对于IDtyperX-16试剂盒中的16个X-STR基因座，在亲权鉴定中应用时可运用乘积原理计算似然率，但若遇到不符合遗传规律的情形（尤其是DXS6809、DXS7132基因座），应考虑存在突变的可能。
목적：검측X염색체상16개STR기인좌적련쇄불평형정황，병대기유전은정성진행조사。방법종화동한족군체선취녀성무관개체500명、가계885개，제취혈양DNA，이용자주연발적IDtyperX-16시제합대16개X-STR기인좌진행다중PCR확증화모세관전영분형，사용PowerMarker v3.25연건대기인좌진행련쇄불평형검험，병분석각개기인좌적돌변솔。결과16개X-STR기인좌피차지간불존재련쇄불평형현상；유10개기인좌검견돌변，기중DXS6809화DXS7132적돌변솔균고체0.0048。결론대우IDtyperX-16시제합중적16개X-STR기인좌，재친권감정중응용시가운용승적원리계산사연솔，단약우도불부합유전규률적정형（우기시DXS6809、DXS7132기인좌），응고필존재돌변적가능。
Objective To assess the patterns oflinkage disequilibrium (LD ) of16 STR loci on X chrom o-som e and investigate the genetic stability. Methods G enom ic DNA samples extracted from blood stains from 500 unrelated individuals and 885 lineage m em bers from E astern C hinese H an population were genotyped through m ultiplex am plification using ID typerX-16 kit by our independent research followed by capillary electrophoresis. LD was assessed by PowerM arker v3.25 software and m utation rate of every locus was analyzed. Results LD were not found at the 16 X-STR loci. A llele m utations were observed at 10 loci. A m ong them , m utation rates of DXS6809 and DXS7132 were both up to 0.004 8. Conclusion W hen the 16 X-ST R loci included in ID typerX-16 kit were used for parentage testing, product princi-ples can be applied to calculate the likelihood, but m utation should be taken into consideration in the case that the genotypes do not m eet the genetic law(especially at DXS6809 and DXS7132).