等位基因座D21S11稀有等位基因32.3的确认  

Certification of rare alleles 32.3 of D21S11 locus

作　　者：王晓勋[1] 李瑞明[1] 陈敏[1] 

机构地区：[1]湖北医药学院附属太和医院生物医学研究所,湖北十堰442000

出　　处：《分子诊断与治疗杂志》2013年第3期157-160,共4页Journal of Molecular Diagnostics and Therapy

摘　　要：目的确证在一例单亲亲权鉴定中所发现的在D21S11等位基因座出现稀有的分型标准物外等位基因。方法为了解该稀有的分型标准物外等位基因的确切分型、复合序列结构、及其最小等位基因频率,设计分子生物学实验,经过PCR,克隆测序显示该稀有等位基因是D21S11基因座的稀有等位基因32.3。结果对稀有等位基因32.3的结构和频率进行分析,测序分析显示拟父和孩子的D21S11基因座的等位基因32.3的核苷酸序列结构相同,复合序列为[TCTA]6[TCTG]5[TCTA]3TA[TCTA]3TCA[TCTA]2TCCATA[TCTA]11。结论稀有等位基因32.3频率较低,在亲权鉴定中会增加此基因座的拟然比率(父权指数),从而提高亲权鉴定的非排除结论的概率,在个体识别鉴定中具有重要的意义。Objective To certify the rare alleles （off-ladder allele, OL） found on the D21Sll locus in a case of paternity identification. Methods In order to understand the exact classification of this rare allele, the composite sequence structure, and its minimum allele frequency, molecular biology experiments, including PCR, cloned and sequencing methods, were designed to prove D21S11 locus exist rare alleles 32.3. Results The structure and frequency of rare alleles 32.3 was analysised. Sequencing analysis showed that the rare allele 32.3 of D21S 11 locus of parent and child had the same nucleotide sequence structure. The composite sequence were [TCTA]6[TCTG]5[TCTA]3TA[TCTA]aTCA[TCTA]ETCCATA[TCTA]11. Conclusion The frequency of rare alleles 32.3 was lower, which will increase the likelihood ratio （patemity index, PI） in the paternity identification, and improve the non-exclusive probability in the paternity test. And also had important significance in the identification of individual.

关 键 词：等位基因座 等位基因 似然比率 父权指数(PI) 

分 类 号：R394[医药卫生—医学遗传学]