摘要
目的采用FVⅢ基因内BclI(intron 18),XbaI(intron 22),HindⅢ(intron 19)三个多态性标志对血友病A家系进行连锁分析,对可能携带者进行检测并对血友病A高危胎儿进行产前诊断。方法通过PCR扩增FVⅢ基因内含BclI(intron 18),XbaI(intron 22),HindⅢ(intron 19)位点的相应片段后,分别用限制性内切酶BclI,XbaI,HindⅢ酶解,对7个血友病A家系进行多态性分析。对有多态性意义者进行携带者检测和产前诊断。结果结合FVⅢ基因内标志BclI(intron 18),XbaI(intron 22),HindⅢ(intron 19),对7个血友病A家系进行分析,4个家系至少有一个标志以上有意义,从而对5名可能携带者进行了检测,并对3个血友病A的高危胎儿进行了产前诊断。结论结合三个基因内的多态性标志,对血友病A家系进行分析,是临床上简便及可靠的携带者检测及产前诊断方法。
Objective To conduct carrier detction and prenatal diagnosis of high risk fetus through linkage analysis by using intra FVⅢ gene polymorphisms BclⅠ （intron 18）, XbaⅠ （intron 22） and HindⅢ （intron 19）. Methods Members from 7 heamophilia A families were analyzed by amplifing three FVⅢ fragments： intron 18, intron 22 and intron 19, then the PCR products were digested by restriction enzymes BclⅠ , XbaⅠ and Hind Ⅲ respectively. Linkage analysis were performed to detect the carrier and prenatal diagnosis if the markers were informative. Results The three FVⅢ intragenic markers BclⅠ （intron 18）, XbaⅠ （intron 22） and HindⅢ （intron 19） were combined to analyze 7 heamophilia A families, at least one of the markers was informative in 4 families. Five possible carriers were detected and 3 high risk heamophilia A fetus were diagnosed. Conclusions Heamophilia A linkage analysis by combing three FVⅢ gene polymorphism markers is a simple and effective method for carrier detction and prenatal diagnosis in clinic.
出处
《苏州大学学报（医学版）》
CAS
北大核心
2005年第6期1000-1003,共4页
Suzhou University Journal of Medical Science
基金
江苏省135医学重点人才项目资助(34R2002034)
