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成人型多囊肾病的基因诊断—APKD基因与α珠蛋白...
引用本文:刘国仰 袁丽芳. 成人型多囊肾病的基因诊断—APKD基因与α珠蛋白...[J]. 中国医学科学院学报, 1991, 13(1): 56-59
作者姓名:刘国仰 袁丽芳
摘    要:

关 键 词:多囊肾 基因 诊断 遗传病

Gene diagnosis of adult polycystic kidney disease--linkage analysis between APKD gene and alpha-globin gene 3''HVR]
G Liu. Gene diagnosis of adult polycystic kidney disease--linkage analysis between APKD gene and alpha-globin gene 3''HVR][J]. Acta Academiae Medicinae Sinicae, 1991, 13(1): 56-59
Authors:G Liu
Affiliation:Institute of Basic Medical Sciences, Beijing.
Abstract:Genomic DNA PvuII fragments containing the 3'HVR from 52 unrelated Chinese of Han nationality varied between 1.7 kb and 10.0 kb and showed high polymorphism. The genomic DNA PvuII fragments from five families with adult polycystic kidney disease (APKD) were analyzed using the alpha-globin gene 3' HVR (hypervariable region) as probe. The results showed a close linkage between 3'HVR and the APKD gene and segregation according to Mendelian laws. The maximum Lod score for linkage between 3' HVR and APKD was 3.372 at a recombination fraction theta = 0.01. The alpha-globin gene 3'HVR probe can therefore be used for presymptomatic gene diagnosis and prenatal diagnosis in the Han ethnic group.
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