[成人多囊肾疾病的基因诊断——APKD基因与α-珠蛋白基因3'HVR之间的连锁分析]
[Gene diagnosis of adult polycystic kidney disease--linkage analysis between APKD gene and alpha-globin gene 3'HVR].
作者信息
Liu G
机构信息
Institute of Basic Medical Sciences, Beijing.
出版信息
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1991 Feb;13(1):56-9.
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.
来自52名无亲缘关系的汉族中国人的包含3'HVR的基因组DNA PvuII片段在1.7 kb至10.0 kb之间变化，并显示出高度多态性。以α-珠蛋白基因3'HVR（高变区）为探针，分析了五个成人多囊肾病（APKD）家系的基因组DNA PvuII片段。结果显示3'HVR与APKD基因紧密连锁，并按孟德尔定律分离。在重组率θ = 0.01时，3'HVR与APKD之间连锁的最大Lod值为3.372。因此，α-珠蛋白基因3'HVR探针可用于汉族人群的症状前基因诊断和产前诊断。
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