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目的 探讨Amelogenin基因在产前胎儿性别及伴性遗传病诊断中的价值。 方法 采用Amelogenin基因的一对特异性引物 ,扩增X -Y同源基因。再采用微量薄板聚丙烯酰胺凝胶电泳分离 ,结合银染 ,检测X与Y同源基因。一次成像记录结果。结果 采用该方法 ,对 2份脐血中男性出现二条带 (X、Y) ,女性出现一条带 (X)。 2 5份绒毛样本 13份出现二条带 ,12份为一条带。 2 5份羊水样本中 10份出现二条带确定为男性胎儿 ,15份出现一条带为女性胎儿 ,与产后随访结果一致 ,符合率 10 0 %。结论 ①Amelogenin基因分析技术可用于产前诊断胎儿性别及伴性遗传病的研究 ,并具有科学和实用的优点。②该技术也可广泛用于法医学性别鉴定、运动员性别鉴定及骨髓移植植活诊断等。③同时有X产物做内对照 ,有效防止单扩增Y染色体为基础技术的假阳性和假阴性结果及等位基因丢失现象。
Objective To investigate the value of Amelogenin gene in the diagnosis of prenatal fetal sex and associated genetic diseases. Methods A pair of specific primers of Amelogenin gene was used to amplify X-Y homologous genes. Then using microplate polyacrylamide gel electrophoresis separation, combined with silver staining, detection of X and Y homologous genes. Record the result once. Results Using this method, two bands (X, Y) appeared in two male umbilical blood and one band (X) in female. 13 samples of 2 5 villus samples appeared as two bands and 12 as one band. Two out of 25 amniotic fluid samples were identified as male fetuses and 15 as fetuses as female fetuses, consistent with the results of postpartum follow-up, with a coincidence rate of 100%. Conclusion ①Amelogenin gene analysis technology can be used for prenatal diagnosis of fetal sex and associated genetic diseases, and has scientific and practical advantages. ② The technology can also be widely used in forensic sex identification, gender identification of athletes and bone marrow transplant diagnosis. ③ At the same time X products as an internal control, which effectively prevent the single amplification Y chromosome-based technology, false positive and false negative results and allelic loss phenomenon.