产前胎儿性别PCR鉴定方法及其在X连锁遗传病诊断中的应用

Sex determination of fetuses and its application in X-linked genetic diseases

作者采用ＰＣＲ技术扩增Ｙ染色体长臂上的ＤＹＺ－１基因，对２２８例羊水进行了产前胎儿性别鉴定，其中４例为ＤＭＤ／ＢＭＤ的高危患儿，１例为甲型血友病的高危患儿。同时用常规细胞遗传学检查作比较，结果表明ＰＣＲ技术用于产前胎儿性别鉴定具有快速、简便、灵敏、特异性强、方法稳定可靠等优点，对Ｘ连锁遗传病的产前诊断具有重要作用。

Polymerase chain reaction(PCR)assay was employed to amplity DYZ-1 gene on the Y chromosome for determining fetal sex in 228 amniotic fluid cells,including 4 fetuses at risk for DMD/BMD and 1 fetus at risk for hemophilia A.Meanwhile the karyotypes of amniotic cells were analyzed by the conventional cytogenetic method.The results show that using PCR technique for determining fetal sex is rapid,simple,sensitive and very reliable.It's very valuable in prenatal diagnosis of X chromosome-linked diseases.