贵州医科大学学报

1998, (01) 3-5

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四个血友病乙家系携带者基因检测及产前诊断
Carrier Detection and Prenatal Diagnosis of 4 Families Hepomphilia B

周毓玲,晏家益,刘京春,刘淑红,季林祥
Zhou Yuling,et alInstitute of Hemotology,CAMS

摘要(Abstract):

应用凝血因子Ⅸ(FⅨ)基因PⅧ/XmnⅠPⅧ/TaqⅠ探针对四个血友病乙家系21人进行限制性片段长度多态性(RFLP)基因连锁分析。确定携带者5例,非携带者5例,对其中1例携带者的高危胎儿进行了基因产前诊断,经PCR性别鉴定及RFLP分析确定为女性携带者。
n this study,we determinde genetic types of 21 members (11 men and 10 women) in 4 families of hemophilia B using gentic probs PⅧ/XmnⅠ and PⅧ/XaqⅠ restriction fragment length polymorphisms (RFLP) for FIX gene and PCR technique.The results of genetic diagnosis for 10 women showed that 5 women were noncarriers and other 5 were carriers of hemophilia B.This results should be significant to facilitate the hemophilia and prenatal diagnosis.1 fetus at risk of hemophilia B was prenatal diagnosed,identifying the fetus was female carrier for hepomphilia B.

关键词(KeyWords): 血友病乙,携带者,限制性片段长度多态性,聚合酶链反应,产前诊断
hemophilia B;carrier;restriction fragment length polymorphisms;polymerase chain reaction;prenatal diagnosis

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作者(Author): 周毓玲,晏家益,刘京春,刘淑红,季林祥
Zhou Yuling,et alInstitute of Hemotology,CAMS

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DOI: 10.19367/j.cnki.1000-2707.1998.01.003

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