Application of α-globin 3′hypervariable region to gene diagnosis of adult polycystic kidney disease

陈国强; 曾瑞萍

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Application of α-globin 3′hypervariable region to gene diagnosis of adult polycystic kidney disease

Updated：2026-03-12

- Application of α-globin 3′hypervariable region to gene diagnosis of adult polycystic kidney disease
- Military Medical Research Issue 1, Pages: 94-97(1993)
- Affiliations：
  
  1. Department of Oncology Zhujiang Hospital
  2. First Military Medical University Guangzhou,510282
  3. Department of Medical Genetics
  4. Sun Yat-sen University of Medical Sciences Guangzhou,510089
- Author bio：
- Funds：
- DOI：
  CLC：
- Published：1993
- Accepted：
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[1]陈国强,曾瑞萍.Application of α-globin 3′hypervariable region to gene diagnosis of adult polycystic kidney disease[J].Journal of Medical Colleges of PLA,1993(01):94-97.
DOI：

[1]陈国强,曾瑞萍.Application of α-globin 3′hypervariable region to gene diagnosis of adult polycystic kidney disease[J].Journal of Medical Colleges of PLA,1993(01):94-97. DOI：

摘要

Abstract

<正> Seventy-four members from 9 adult polycystic kidney disease（APKD）familieswere analysed with Southern blot and 3′hypervariable region/Pvu Ⅱ

3′HVR/Bgl ⅡRFLPs.The results showed that 3′ HVR fragments were highly polymorphic.Theheterozygote frequencies of Pvu Ⅱ

Bgl Ⅱ and PvuⅡ+Bg1Ⅱ fragments were 92%

84.7%and 98.6%

respectively.The maximum lod score for linkage between 3′HVR and APKDwas 9.71 at a recombination fraction 0.045.We successfully applied 3′HVR probe to thegene diagnosis of 17 symptomatic patients and 7 patients in the presymptomatic stage.

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