常染色体STR三体基因座父权指数计算方法探讨

The calculation methods of paternity index for abnormal autosomal STR loci of trisomysyndrome

目的探讨常染色体三体综合征患者异常基因座的父权指数计算方法。方法根据三体综合征的发病机理,以及父权指数计算原理,分别推导涉及三体综合征孩子的标准三联体和二联体亲子鉴定中的异常基因座的父权指数计算式,并举例演算。结果总结了在涉及三体综合征孩子的标准三联体和二联体的亲子鉴定中,分别在明确和不明确不分离染色体来源的情况下,X和Y的计算式。结论对于涉及到三体综合征孩子的亲子鉴定,在明确的核型分析诊断的前提下,可通过归纳的计算式进行三体基因座的父权指数计算。

Objective To discuss the calculation methods of paternity index for abnormal autosomal STR loci of trisomysyndrome. Methods Based on the pathogenesis of trisomysyndrome and the principle of the paternity index calculation, the calculation formulas of paternity index for the abnormal autosomal STR loci of trisomysyndrome were derived for trio and duo cases respectively. Results The calculation formulas of X and Y value were summarized for trio and duo cases, in which the source of the nondisjunction chromosome was either known or unknown. Conclusion On the premise of a clear karyotype diagnosis of trisomysyndrome, the paternity index of abnormal autosomal STR loci of trisomysyndrome can he calculated with the calculation formulas derived by this paper.