【摘要】 应用ＳＳＣＰ（单链构象多态性）对５个含外显子７的ＣＧＡ（Ａｒｇ２４３）→ＣＡＡ（Ｇｌｎ２４３）突变的杂合家系进行第二胎早期产前诊断，结果显示有２例胎儿携带有该种突变，在我们建议下行人工流产终止妊娠；另３例胎儿不携带该种突变，其中两例正常妊娠分娩，并于产后和生后半年进行生化检测均示正常，另一例尚未分娩。更多还原

【Abstract】 Prenatal diagnosis was performed in 5 families with extron 7(CGA→CAA)mutation by SSCP method.The results showed that two infants had this mutation.The pregnant women were suggested to have the abortion induced to end the pregnancy.The other 3 infants were normal in which 2 infants were delivered with normal biochemical determination 6 months later,the other 1 is ongoing pregnancy.更多还原