摘要
作者采用Southern杂交方法,通过对58名无血缘关系的健康成人3'HVB/PvuⅡ限制性片段的研究,初步揭示了我国人群中3'HVR的多态性。结果表明,3'HVR的大小变异在1.4～8.0kb之间,各等位片段的频率呈正偏态分布。其中2.0～2.6kb的等位片段约占39%,95%的片段大小在1.6～7.4 kb范围。此外,还以3'HVR为探针,对两个成年型多囊肾病家系的有关成员进行了基因诊断,表明这一方法在我国是可行的。
DNA samples of periphral blood cells from 58 healthy consanguineously unrelated persons were prepared, digested with restriction enzyme PvuⅡ, and then hybridised with ^(32)P-labelled 3' HVR probe. The sizes of 3'HVR alleles were estimated by employing a self-made curve equation fitting computer program. It demonstrated that the size variation of 3'HVR alleles is between 1.4-8.0kb; the frequency distribution of 3'HVR alleles fits positive skewness with about 39% of the total alleles between 2.0-2.6kb and 95% 1.6-7.4. The results are similiar to those reported by Reeders. In addition, gene linkage analysis using 3'HYR probe for two APKD families were successfully established. It may be concluded that it is practicable in China to carry out APKD gene linkage diagnosis using 3'HVR probe.
出处
《遗传与疾病》
CSCD
北大核心
1991年第2期71-73,126-127+129,共3页
基金
国家教委博士点基金
关键词
多囊肾
Α珠蛋白基因
基因诊断
3'HVR APKD Gene diagnosis α-globin gene cluster
