摘要
目的：研究重症血管性血友病（ｖＷＤ）患者家系成员临床表型特征，并分析血管性血友病因子（ｖＷＦ）基因缺陷的传递规律。方法：应用ｖＷＦ多聚体分析和ＥＬＩＳＡ法检测重症ｖＷＤ患者父母家系四代２６位成员临床表型。在此基础上针对ｖＷＦ基因内多个ＲＦＬＰ和ＶＮＴＲ位点，对所有家系成员进行缺陷基因遗传分析。结果：患者血浆ｖＷＦ∶Ａｇ＜２％，检测不到多聚体条带。基因分析表明两条ｖＷＦ等位基因分别来自父方和母方家系，且均有缺陷。部分家系成员携有一条缺陷基因，ｖＷＦ水平正常或有轻度下降，多聚体图谱正常。结论：①先证者可能为复合杂合子型的３型ｖＷＤ患者，携带者的缺陷基因可被正常基因弥补。②应用ｖＷＦ基因多种多态性标志行ＤＮＡ分析对重症ｖＷＤ家系遗传咨询有实用意义。
Objective: To investigate clinical features and analyse defect gene transmission in a severe vWD pedigree. Methods: Phenotypes of a severe hemorrhagic pedigree including 26 family members of four generations were diagnosed with vWF multimer banding and ELISA . Defective gene transmission among the family members was investigated with a series of RFLP and VNTR loci within vWF gene. Results: For the proband, plasma vWF∶Ag was less than 2%, and multimer banding was negative. Gene analysis showed that she carried 2 different defective vWF haplotypes from her parents. The family members carrying one of the defective haplotypes showed normal or slight decrease of vWF∶Ag and normal multimer banding pattern. Conclusion: ①The proband could be regarded as a putative compound heterozygote of type 3 vWD. The defect vWF gene carried by heterozygote family members could be compensated by a normal allele. ②DNA analysis based on polymorphism markers within vWF gene has practical values in genetic consulting of severe vWD pedigrees.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
1998年第9期451-454,共4页
Chinese Journal of Hematology
基金
国家自然科学基金
卫生部科学研究基金
胡应洲基金
关键词
血友病
血管性血友病
VWD
基因多态性
Gene,von Willebrand factor Gene polymorphism von Willebrand disease
