中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
2期
230-234
,共5页
曾祥培%任峥%陈文静%吴小洁%童大跃%孙宏钰
曾祥培%任崢%陳文靜%吳小潔%童大躍%孫宏鈺
증상배%임쟁%진문정%오소길%동대약%손굉옥
X染色体%短串联重复序列%遗传多态性%稀有等位基因%突变
X染色體%短串聯重複序列%遺傳多態性%稀有等位基因%突變
X염색체%단천련중복서렬%유전다태성%희유등위기인%돌변
X chromosome%short tandem repeat%genetic polymorphism%off-ladder allele%mutation
目的 调查Investigator Argus X-12扩增体系的12个X染色体短串联重复序列(Xchromosome short tandem repeat,X-STR)基因座在广东汉族人群的遗传多态性.方法 采用荧光标记复合扩增和毛细管阵列电泳技术,对200名广东汉族无关个体(男性100名,女性100名)和103例家系样本(父-母-女三联体59例,母-子二联体44例)的DNA进行12个X-STR基因座分型.结果 在该群体中12个X-STR基因座共检出137个等位基因,其中包括9种稀有等位基因(off-ladder allele,OL allele).在162次减数分裂中共观察到6个突变事件.12个X-STR基因座的累积男性个体识别力为0.999 999 997,累积女性个体识别力为0.999 999 999,累积三联体非父排除率为0.999 999 988,累积二联体非父排除率为0.999 998 013.结论 Investigator Argus X-12系统在广东汉族人群中具有高度的多态性,对个体识别和亲权鉴定案件,尤其是特殊亲权鉴定案件极具应用价值.
目的 調查Investigator Argus X-12擴增體繫的12箇X染色體短串聯重複序列(Xchromosome short tandem repeat,X-STR)基因座在廣東漢族人群的遺傳多態性.方法 採用熒光標記複閤擴增和毛細管陣列電泳技術,對200名廣東漢族無關箇體(男性100名,女性100名)和103例傢繫樣本(父-母-女三聯體59例,母-子二聯體44例)的DNA進行12箇X-STR基因座分型.結果 在該群體中12箇X-STR基因座共檢齣137箇等位基因,其中包括9種稀有等位基因(off-ladder allele,OL allele).在162次減數分裂中共觀察到6箇突變事件.12箇X-STR基因座的纍積男性箇體識彆力為0.999 999 997,纍積女性箇體識彆力為0.999 999 999,纍積三聯體非父排除率為0.999 999 988,纍積二聯體非父排除率為0.999 998 013.結論 Investigator Argus X-12繫統在廣東漢族人群中具有高度的多態性,對箇體識彆和親權鑒定案件,尤其是特殊親權鑒定案件極具應用價值.
목적 조사Investigator Argus X-12확증체계적12개X염색체단천련중복서렬(Xchromosome short tandem repeat,X-STR)기인좌재엄동한족인군적유전다태성.방법 채용형광표기복합확증화모세관진렬전영기술,대200명엄동한족무관개체(남성100명,녀성100명)화103례가계양본(부-모-녀삼련체59례,모-자이련체44례)적DNA진행12개X-STR기인좌분형.결과 재해군체중12개X-STR기인좌공검출137개등위기인,기중포괄9충희유등위기인(off-ladder allele,OL allele).재162차감수분렬중공관찰도6개돌변사건.12개X-STR기인좌적루적남성개체식별력위0.999 999 997,루적녀성개체식별력위0.999 999 999,루적삼련체비부배제솔위0.999 999 988,루적이련체비부배제솔위0.999 998 013.결론 Investigator Argus X-12계통재엄동한족인군중구유고도적다태성,대개체식별화친권감정안건,우기시특수친권감정안건겁구응용개치.
Objective To investigate the genetic polymorphisms of 12 X chromosome short tandem repeat (X-STR) loci of Investigator Argus X-12 amplification kit in Guangdong Han population. Methods DNA samples from 200 unrelated individuals (100 males and 100 females) and 103 families (59 fathermother-daughter trios and 44 mother-son duos) were extracted and amplified with fluorescence labeled multiplex PCR system. PCR products were separated and genotyped with capillary array electrophoresis.Results One hundred and thirty-seven alleles,including 9 off-ladder alleles (OL allele) were observed at the 12 X-STR loci in the population. Six mutations were observed in 162 meioses. The combined power of discrimination (DP) was 0. 999 999 997 in males and 0. 999 999 999 in females, and the combined mean exclusion chance (MEC) was 0. 999 999 988 in the trio cases and 0. 999 998 013 in the duo cases. Conclusion Investigator Argus X-12 amplification system is highly polymorphic in Guangdong Han population and it is powerful for personal identification and paternity testing.
