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用SSLP连锁分析进行成人多囊肾病快速基因诊断的研究 |
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景全胜△ 曾瑞萍
【摘要】 目的 为了探索一种简便、快速的成人多囊肾病(adult polycystic kidney
disease, APKD)基因诊断方法。方法 应用PCR技术结合SRS-SSLP，对成人多囊肾病进行
研究。结果 PCR扩增PKD1近端微卫星序列SM7，观察了中国人群SM7的多态性，在67名非
血缘关系正常人中发现7种等位片段，杂合子频率52.2%，PIC值0.62。以SM7为遗传标记，
对2个APKD家系进行SSLP连锁分析，和3′HVR／PvuⅡ RFLP连锁分析进行对照，结果二者
相符。结论 SM7在中国人中具有较高的多态性，用SSLP连锁分析进行成人多囊肾病的基
因诊断切实可行。
【关键词】 成人多囊肾病 基因诊断 简单重复序列 简单序列长度多态性
APPLICATIONOF PCR-SSCP TO RAPID GENETIC DIAGNOSIS OF ADULT POLYCYSTIC
KIDNEY DISEASE Jing Quansheng*, Zeng Ruiping.*Department of Medical Genetics,Sun
Yat-sen University of Medical Sciences, Guangzhou 510089
【Abstract】 Objective To explore a rapid and easy-to-do linkage analysisin families with
adult polycystic kidney disease (APKD). Methods The polymorphismof SM7, a SRS which lies
proximal to PKD1, among Chinese people was analysedusingPCR, PAGE and silver staining. SM7-SSLP
linkage analyses were performedin two APKDfamilies and the results were compared with these of
3′ HVR／PvuⅡlinkage analysesin 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 sreport, showing that there is nomarked
difference in the polymorphism of SM7 between Chinese and Caucasian. The results of SM7-SSLP
linkage analyses in the twoAPKDfamilies consisted with the results of 3′ HVR／PvuⅡlinkage analyses
thoughin one family the information provided by SM7 was less than 3′HVR. ConclusionThe polymorphism
of SM7 locus is high in Chinese and SM7 can be used in linkageanalysisas a valuable marker. SSLP
linkage analysis proved to be a very usefulway for rapid genetic diagnosisof APKD providing that a
highly polymorphic markeris used, and the result can be analysed easily.
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