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目前,由常染色体STR位点和Amelogenin基因组成的商品化试剂盒已被广泛应用于个体识别、亲权鉴定和DNA数据库的建立。而将其应用于产前遗传病诊断的报道则较少,本实验室是国内最早将亲子鉴定实验中的16个STR位点用于遗传病产前分子诊断,在检测羊水样本的STR位点排除母体DNA污染的同时,判断突变基因的来源,发现新生突变,而检测Amelogenin基因可以对某些性连锁
At present, commercial kits consisting of an autosomal STR locus and Amelogenin gene have been widely used for individual identification, parental identification and DNA database. However, there are few reports on the diagnosis of prenatal genetic diseases. This laboratory is the earliest 16 STR loci used in paternity testing in China for prenatal molecular diagnosis of genetic diseases. In the detection of STR loci in amniotic fluid samples Eliminate the mother of DNA contamination at the same time, determine the source of mutations in the gene, found that new mutations, and detection of Amelogenin gene can be some of the sex-linked