应用DNA体外扩增技术对血友病A进行产前诊断

PRENATAL DIAGNOSIS OF HEMOPHILIA A BY ANALYSIS OF AMPLIFIED DNA

本文报告用聚合酶链反应(PCR)DNA体外扩增技术对一例血友病A高危妊娠进行产前诊断的结果。绒毛DNA经人类Y-染色体特异DNA探针杂交鉴定出胎儿为女性。通过PCR扩增包含BclⅠ多态位点的特异DNA片段,然后进行扩增DNA的Bcl酶谱分析和寡核苷酸点杂交,诊断胎儿为血友病A携带者。

This paper presents the result of a study on the prenatal diagnosis of hemophilia A by the technique of DNA amplification (PCR) . The chorionic villus DNA was hybridized with pY. 3.4 probe A 142 bp of specific DNA fragment in FVⅢ gene sequences which included a Bcl I restriction polymorphic site was amplified and the amplified DNA was performed restriction mapping and dot-blot oligonucleotide hybridization. The fetus was predicted as a female carrier for hemophilia A.