摘要
目的 建立简便、快速的血友病Ａ产前诊断体系。方法用ＰＣＲ方法直接检测ＦＶⅢ内含子２２倒位或对ＦＶⅢ基因内的ＢｃｌⅠ位点，内含子１３和２２中ＳＴＲ和ＦＶⅢ基因外的ＤＸＳ ５２（ＳＴ１４）位点的多态性进行遗传连锁分析。结果５例血友病Ａ携带者的男性胎儿有４例正常，１例为ＨＡ患者。结论 血友病Ａ的产前诊断可先进行内含子２２倒位的检测，阳性结果即可作出诊断；若内含子２２倒位的检测结果阴性，则可利用ＦＶⅢ基因内、外的多个位点多态性结果进行遗传连锁分析，以得出最终的诊断。
Objective To establish a simple and rapid prenatal diagnosis system on hemophilia A(HA). Methods Intron 22 inversion was directly examined by long distance polymerase chain reaction, or heredity linkage analysis on polymorphism of factor VⅢ intragenic RFLP of Bcl 1, STR within intron 13 and 22, as well as extragenic DXS 52(St 14) VNTR loci was done. Results Five HA carriers' male fetus were examined. One of them was hemophiliac and the other four were normal. Conclusions If the intron 22 inversion is present, we can datermine the diagnosis of hemophilia A patients; if the results is negative, we can do the heredity linkage analysis and get the ultimate diagnosis by using the intragenic and extragenic loci comprehensively.
出处
《中国实验诊断学》
2001年第1期9-11,共3页
Chinese Journal of Laboratory Diagnosis
