目的为了快速、准确地对黏多糖贮积症Ⅱ型(MPSⅡ)高危胎儿做出产前基因诊断,从而及时而高效地防止病胎的出生。方法在阐明先证者病因及其父母基因型的基础上,采用已建立的突变特异性扩增系统(ARMS)特异引物直接鉴定法、变性高效液相色谱(DHPLC)快速筛检法,结合DNA序列分析法,对已孕20周的高危胎儿的艾杜糖-2-硫酸酯酶(IDS)基因相应突变位点进行快速检测和鉴定。由于MPSⅡ为XR病,故又用SRY引物对胎儿进行性别鉴定,以避免可能出现的母血污染而导致的误诊。结果所怀胎儿未获得母源性的c.1344delA突变,是1例基因型完全正常的女胎。后经随访和复检,证实所生小孩的基因型、表现型都与产前诊断结果完全一致。结论 ARMS特异引物直接鉴定法、DHPLC快速筛检法结合DNA序列分析法是快速、准确产前诊断MPSⅡ高危胎儿的有效方法。其中,所建立的ARMS和DHPLC方法,既快速特异,又简便经济,可在一天之内送报结果 ,特别适用于已明确病因的高危胎儿的早期诊断以及正常组和患者试验组的快速鉴别。这一产前基因诊断工作的成功实施为今后继续开展本病以及其他相关遗传病的遗传咨询、基因诊断和产前诊断积累了宝贵的经验,也为今后开展植入前遗传学诊断等打下较好的基础。 Objective To quickly and accurately diagnose prenatal gene in MPS Ⅱ high-risk fetus and prevent the birth of the fetus in a timely and efficient manner. Methods Based on the elucidation of the etiology of the probands and their parents’ genotypes, the direct identification of the specific primers by ARMS and rapid screening by denaturing high performance liquid chromatography (DHPLC) Sequence analysis was used to detect and identify the corresponding mutated sites of idose-2-sulfatase (IDS) gene in high-risk fetus 20 weeks pregnant. As MPS Ⅱ for XR disease, so again with the SRY primer on the fetus sex identification, in order to avoid possible maternal blood contamination caused misdiagnosis. Results fetus fetus did not get maternal c.1344delA mutation, is a genotype completely normal female fetus. After follow-up and re-examination confirmed that children born genotypes, phenotypes are consistent with prenatal diagnosis. Conclusion ARMS specific primers direct identification method, DHPLC rapid screening method combined with DNA sequence analysis is a fast and accurate prenatal diagnosis of MPS Ⅱ high-risk fetus effective method. Among them, the established ARMS and DHPLC methods are rapid and specific, simple and economical, and can deliver the results within one day, especially for early diagnosis of high-risk fetuses with definite etiology and rapid identification of normal and patient groups. The successful implementation of this prenatal genetic diagnosis has accumulated valuable experience in genetic counseling, genetic diagnosis and prenatal diagnosis of this disease and other related genetic diseases in the future and also laid a solid foundation for the future development of preimplantation genetic diagnosis Good foundation