应用遗传多态性连锁分析进行血友病A家系分析  

Analyze haemophilia a family by using inherited polymovphism linkage analysis

作　　者：杨林花[1] 郭艳丽[1] 郭志萍[1] 侯丽虹[1] 刘秀娥[1] 

机构地区：[1]山西医科大学第二医院血液科,太原030001

出　　处：《临床血液学杂志》2005年第3期168-170,共3页Journal of Clinical Hematology

基　　金：山西省科技厅攻关项目(NO:022073-1);山西省自然基金资助(NO:20041115)

摘　　要：目的:探讨提高血友病A患者及家系成员的基因诊断、携带者检出的诊断率的途径。方法:对两个血友病A家系成员进行BclI位点和St14VNTR多态位点基因连锁分析。结果:运用BclI位点,家系a中Ⅱ3得到明确诊断;家系b中Ⅱ2为携带者,其中因家系b中Ⅱ1为99/99bp,呈纯合子,故无法对Ⅲ2、Ⅲ3做出判断。应用St14VNTR多态位点,家系a中女性Ⅱ2为携带者;家系b中先证者Ⅲ1的母亲Ⅱ1在该位点呈纯合子,故无法对Ⅲ2、Ⅲ3做出诊断,同样家系b中先证者Ⅱ5的母亲Ⅰ2亦为纯合子,故无法对Ⅱ2作诊断。该家系在此位点无信息,不能作诊断。结论:联合应用多个遗传多态性标志可以提高血友病A的诊断率和确保对携带者分析的正确率。Objective:To improve the gene diagnosis and carrier detection in for hemophilia A patients and their family members.Method:A linkage analysis on polymorphism of factor Ⅷ of BclⅠand St14 variable number tandem repeats(VNTR) was examined in two hemophilia A family members.Result:The Ⅱ3 of the family A was diagnosed definitely as a carrier by the BclⅠ; the Ⅱ2 of family B was a carrier, because the Ⅱ1 of family B was 99/99 bp, was homogeneous, the Ⅲ2 and Ⅲ3 couldn't be determined. The female Ⅱ2 of family A was determinedas a carrier by the polymorphism of St14 VNTR; The mother Ⅱ1 of the patient Ⅲ1 in family B was homogeneous, so the Ⅲ2 and Ⅲ3 couldn't be judged, similarly, patient Ⅱ5's mother of family B was homogeneous, so the Ⅱ2 couldn't be determined. This site wasn't informative in this family.Conclusion:The diagnosis rate of HA and accuracy rate of carrier analysis can be confirmed by the combined use of several polymorphic markers.

关 键 词：血友病A Ⅷ因子 多态性 

分 类 号：R554[医药卫生—血液循环系统疾病]