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[通过DNA分析进行甲型血友病的产前诊断]

[Prenatal diagnosis of hemophilia A by DNA analysis].

作者信息

Sun N H

机构信息

Peking Union Medical College Hospital.

出版信息

Zhonghua Fu Chan Ke Za Zhi. 1990 Nov;25(6):328-30, 382.

PMID:1980889
Abstract

Prenatal diagnosis of hemophilia A and B was carried out in our hospital by DNA analysis in early and late villi and amniotic cells. Fifteen women with family history of hemophilia were studied by different sets of DNA probes and restrictive enzymes from Nov. 1986 to March 1989. Two of the 15 women were proved not carriers by blood sample assaying. Two did not show sites of polymorphism and another was not reported owing too small a DNA sample of amniotic cells. Among other 10 cases, 4 were proven normal male fetus, 1 proven affected male fetus was induced, and 5 were proven female fetus with 2 carriers.

摘要

我院通过对早期和晚期绒毛及羊水细胞进行DNA分析,对甲型和乙型血友病进行产前诊断。1986年11月至1989年3月期间,对15名有血友病家族史的妇女采用了不同组的DNA探针和限制性内切酶进行研究。通过血样检测,证实15名妇女中有2名不是携带者。有2名未显示多态性位点,另1名因羊水细胞DNA样本过小未作报告。在其他10例中,4例被证实为正常男性胎儿,1例被证实为患病男性胎儿并引产,5例被证实为女性胎儿,其中2例为携带者。

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