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[甲型血友病的产前诊断——聚合酶链反应及家族限制性片段长度多态性分析的应用]

[The prenatal diagnosis of hemophilia A--the use of PCR and family RFLP analysis].

作者信息

Bian M

机构信息

PUMC Hospital, Beijing.

出版信息

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1993 Apr;15(2):102-7.

PMID:7902217
Abstract

Seven families with hemophilia A were analyzed by using the polymerase chain reaction (PCR) technique. Prenatal diagnosis was performed in 4 cases at high risk of hemophilia A. The results suggested that the gene fragment of factor VIII might be amplified by the simple, fast and sensitive PCR technique and is especially suited to prenatal diagnosis using very small amounts of chorionic villi or amniocytes. Restriction fragment length polymorphism (RFLPs) analysis of BclI was also performed. The sample, which could not be diagnosed by BclI, could be analyzed with RFLPs of XbaI. Finally, DNA probe's Southern blotting analysis could be used for those samples which could not be diagnosed with XbaI. 85% of all hemophilia A cases could be diagnosed with our technique.

摘要

运用聚合酶链反应(PCR)技术对7个甲型血友病家庭进行了分析。对4例甲型血友病高危病例进行了产前诊断。结果表明,采用简单、快速且灵敏的PCR技术可扩增出凝血因子VIII的基因片段,尤其适用于使用极少量绒毛膜绒毛或羊水细胞进行产前诊断。还进行了BclI的限制性片段长度多态性(RFLP)分析。无法通过BclI诊断的样本可用XbaI的RFLP进行分析。最后,DNA探针的Southern印迹分析可用于那些无法通过XbaI诊断的样本。我们的技术可诊断出所有甲型血友病病例中的85%。

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