联合应用四种分子生物学技术对血友病A家系进行基因诊断  

Using four kinds of molecular biological technologies to take genetic diagnosis for hemophilia A family ancestry

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

机构地区：[1]山西医科大学第二医院血液科,030001

出　　处：《中国药物与临床》2005年第8期582-584,共3页Chinese Remedies & Clinics

基　　金：山西省自然科学基金资助项目(20041115);山西省科技厅攻关基金资助项目(0220731)

摘　　要：目的最大限度提高血友病A(hemophiliaA,HA)患者及家系成员的基因诊断、携带者检出。方法对22例HA患者和两个家系的成员14人首先采用长距离DNA扩增(LD-PCR)技术,直接检测是否为基因倒位及其携带者;对于非倒位的HA家系依次采用FⅧ基因内的位点BclⅠ(RFLP)、内含子13和22中的STR、FⅧ基因外的DXS52(ST14)位点的多态性进行遗传连锁分析。结果22例HA中12例为重型,8例为中型,2例轻型;12例重型中6例为内含子22倒位,占50%,用该基因信息为一家系2名女性进行了检测均为携带者;联合应用间接遗传连锁分析,对2个家系进行检测,家系C中有1名女性为携带者,家系D中2名女性确定为携带者,1名为正常人。结论联合应用四种分子生物学技术,几乎可以为所有有家族史的HA家系作出基因诊断和携带者检出。Objective To improve the gene diagnosis and carrier detection for hemophilia A （HA） patients and their families. Methods Long distance PCR （LD-PCR） was used to detect intron 22 inversion among 22 HA patients and 14 members of two HA families to identify directly those with intron 22 inversion and its carriers. Gene linkage analysis based upon BclⅠ RFLP within FⅧ gene, STR in intron 13 and 22,DXS52 （ST14） outside FⅧ gene were sequentially used among non-inversion HA families for indirect diagnosis. Results Among the 22 HA patients, twelve were severe, eight were moderate, two were light. In the twelve severe patients, six with intron 22 inversion, being about 50%.Two female offsprings of a HA family were detected carriers using this gene information to examine. Indirect gene linkage analysis was used in two HA families, a female of family C was a carrier. Two females were carriers, one was normal in family D. Conclusion Gene diagnosis and carrier detection can be confirmed among almost all of HA families by the combined use of the four molecular biological technologies.

关 键 词：联合用药 分子生物学技术 血友病A 遗传因素 基因诊断 聚合酶链反应 

分 类 号：R55[医药卫生—血液循环系统疾病]