亲子鉴定中STR基因座D2S1338突变分析与解决对策

Analysis and strategy for the mutation of STR locus D2S1338 in paternity testing

目的:研究短串联重复序列(short tandem repeats,STR)基因座分型方法在亲子鉴定中的应用。方法:提取基因组TMDNA,应用Identifiler 15+1和AGCU 21+1二个系统的STR基因座荧光标记试剂盒,对36个常染色体STR基因座进行检测。结果:在TMIdentifiler 15+1系统检验过程中,15个被检基因座除D2S1338基因座的分型结果不符合遗传规律,其余均符合遗传规律。应用AGCU 21+1 STR基因座荧光标记试剂盒补充检测,所检测的21个常染色体STR基因座全部符合遗传规律。结论:当D2S1338基因座发生了突变,应用AGCU 21+1 STR基因座荧光标记试剂盒进行补充检测,还可作为STR基因座发生突变的补救手段。

OBJECTIVE： Analysis of the genotyping of STR locus in paternity testing. METHODS： Genomic DNA was extracted from blood samples. 36 STR loci located in autosome were detected using IdentifilerTM and AGCU 21＋1 multiplex STR system. RESULTS： All of the genotypes were in line with Mendelian law of heredity except the locus D2S1338 in the genotyping of IdentifilerTM multiplex STR system. All of the 21 loci were consistent with Mendelian law of heredity when AGCU 21＋1 multiplex STR system was added afterward. CONCLUSION： Applying AGCU 21＋1 multiplex STR system as a complement was an effective strategy when mutation of STR locus occurs, such as the locus D2S1338 in this case, in paternity testing. Furthermore, paternity could then be confirmed.