19例基因突变分析

The observation and analysis of gene mutations of 19 cases

目的对19例不符合遗传规律的基因突变现象进行分析，并探讨其对亲子鉴定的影响。方法对使用Profiler Plus＋Cofiler试剂盒鉴定的118例，使用Identifiler^TM试剂盒鉴定的552例亲子鉴定案例中出现的19例1～2个STR不符合遗传规律的家庭，使用DNATyper15^TM试剂盒进行复检。结果原鉴定19个案例中有1个STR基因座不符合遗传规律的17例，有2个STR基因座不符合遗传规律的2例；使用DNATyper15^TM试剂盒进行复检，结果其中3例D8S1179基因座被证实系等位基因丢失，其余16例复检结果仍不符合遗传规律，分析认为系等位基因突变所致。结论在有1～2个基因座不符合遗传规律时，要综合分析，并增加检测基因座的数量，避免基因座的错误分型和亲子关系的误判。

Objective Gene mutations of 19 cases that did not comply with the genetic rule were analyzed in this article, its impact on the paternity test was also discussed here. Methods 19 cases were from 670 cases, in which 118 were detected with Profiler Plus ＋ Cofiler kit and 552 Identifiler^TM kit . One or two STR loci in the 19 cases were found did not comply with the genetic rule. We detected the 19 eases again using DNATyper15^TM kit. Results One STR locus was not in line with the inheritance in 17 cases, and two STR loci in 2 cases. Rechecked the 19 cases using DNATyper15^TM kit and found that 3 cases were allele dropout at D8S1179, the other 16 cases still did not comply with the genetic rule. Conclusion When it comes to 1 or 2 loci being not in line with the rule, analyze comprehensively, meanwhile increase the amount of testing loci, in order to avoid the wrong typing and the misjudgment of patent-child relationship.