[聚合酶链反应-单链构象多态性技术在成人多囊肾疾病快速基因诊断中的应用]

[Application of PCR-SSCP to rapid genetic diagnosis of adult polycystic kidney disease].

作者信息

Jing Q, Zeng R

机构信息

Department of Medical Genetics, Sun Yat-sen University of Medical Sciences, Guangzhou, 510089 P. R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 Feb 10;15(1):20-3.

PMID:9456367

Abstract

OBJECTIVE

To explore a rapid and easy-to-do linkage analysis in families with adult polycystic kidney disease(APKD).

METHODS

The polymorphism of SM7, a SRS which lies proximal to PKD1, among Chinese people was analysed using PCR, PAGE and silver staining. SM7-SSLP linkage analyses were performed in two APKD families and the results were compared with these of 3'HVR/Pvu II linkage analyses in the same families.

RESULTS

Seven kinds of SM7 alleles were observed in the 67 unrelated Chinese people. The heterozygosity was 52.5% and PIC 0.62. The most common allele was Y9. The result was close to that of Harris's report, showing that there is no marked difference in the polymorphism of SM7 between Chinese and Caucasian. The results of SM7-SSLP linkage analyses in the two APKD families consisted with the results of 3'HVR/Pvu II linkage analyses though in one family the information provided by SM7 was less than 3'HVR.

CONCLUSION

The polymorphism of SM7 locus is high in Chinese and SM7 can be used in linkage analysis as a valuable marker. SSLP linkage analysis proved to be avery useful way for rapid genetic diagnosis of APKD providing that a highly polymorphic marker is used, and the result can be analysed easily.

摘要

目的

探索一种快速且易于操作的成人多囊肾病（APKD）家系连锁分析方法。

方法

采用聚合酶链反应（PCR）、聚丙烯酰胺凝胶电泳（PAGE）和银染法分析位于多囊肾病1（PKD1）近端的短串联重复序列（SRS）SM7在中国人群中的多态性。对两个APKD家系进行SM7-简单序列长度多态性（SSLP）连锁分析，并将结果与同一家系中3'高变区（3'HVR）/Pvu II连锁分析结果进行比较。

结果

在67名无血缘关系的中国人中观察到7种SM7等位基因。杂合度为52.5%，多态信息含量（PIC）为0.62。最常见的等位基因为Y9。该结果与哈里斯的报告相近，表明中国人群与白种人群在SM7多态性方面无显著差异。两个APKD家系的SM7-SSLP连锁分析结果与3'HVR/Pvu II连锁分析结果一致，尽管在一个家系中SM7提供的信息少于3'HVR。