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目的短串联重复新位点D13S252、D13S305、D13S628、D13S325,D18S390、D18S819、D18S978、D21S1409、D21S1435在产筛高危孕妇中产前诊断21、18、13三体。方法选择产前血清学筛查高危和或胎儿B超异常100例孕妇羊水和脐血样本为研究对象,包含上述位点的单管多重体系检测21、18、13三体,PCR产物测序检测,Gene MapperID3.2软件分析处理。计算体系中各位点杂合度和多态信息含量。结果 97例扩增,检测出25例染色体非整倍体,包括18例21-三体,6例18-三体,1例13-三体,和72例正常二体,3例扩增失败。所有结果与染色体核型分析相符。体系中各STR位点的等位基因数4～14个,H为0.61～0.88,PIC为0.556～0.870。新位点的PIC为0.575～0.793,均>0.5。21号染色体联合使用4个以上STR位点,18号染色体5个以上位点检出率才能达100%。结论上述STR新位点杂合度和多态信息含量高,可用于21、18、13三体产前诊断。
Objective To investigate the prenatal diagnosis of trisomy 21, 18, and 13 in pregnant women with high screening risk. Methods 100 samples of amniotic fluid and umbilical cord blood of high risk and / or fetus B ultrasound abnormalities were selected as prenatal serological samples. The single and multiple tube system containing these loci was used to detect trisomy 21, 18 and trisomy 13, PCR products were sequenced, Gene MapperID3.2 software analysis and processing. Calculate the heterozygosity and polymorphism information content of each locus in the system. Results A total of 97 cases of chromosomal aneuploidy were detected in 97 cases, including 18 cases of 21-trisomy, 6 cases of 18-trisomy, 1 case of 13-trisomy, and 72 cases of normal body. . All results are consistent with the karyotype analysis. The number of alleles per STR locus ranged from 4 to 14 with a H of 0.61 to 0.88 and a PIC of 0.556 to 0.870. The PIC of the new locus was 0.575 ~ 0.793, all of which had more than 4 STR loci on the chromosomes> 0.5.21. The detection rate of more than 5 loci on chromosome 18 could reach 100%. Conclusion The STR loci have high heterozygosity and polymorphism information, which can be used for prenatal diagnosis of trisomy 21,18,13.