SM6的多态性及其在成人多囊肾病基因诊断中的初步应用  

POLYMORPHISM OF MICROSATELLITE DNA SM6 IN CHINESE POPULATION AND ITS APPLICATION IN GENE DIAGNOSIS OF APKD

作　　者：丁兰[1] 张思仲[1] 

机构地区：[1]华西医科大学附属第一医院医学遗传研究室

出　　处：《中华医学遗传学杂志》1997年第4期199-202,共4页Chinese Journal of Medical Genetics

基　　金：由卫生部科研基金;四川省计生委科研基金

摘　　要：为了评估与成人多囊肾病ＰＫＤ１基因紧密连锁的微卫星ＤＮＡＳＭ６在基因诊断中的有效性，采用ＰＣＲ、聚丙烯酰胺凝胶电泳（ＰＡＥＧ）和银染法分析了９５名无血缘关系的中国汉族人，结果表明：在汉族人群中ＳＭ６具有２４种等位片段，其杂合度为０．６６３，多态信息量（ＰＩＣ）为０．８０。研究人群与文献报道的白种人群相比，ＳＭ６在种类和分布上均有差异。中国人比白种人ＳＭ６等位片段多８种，且其中１１种等位片段是白种人中未曾报道的，而白种人中的１４０ｂｐ，１３６ｂｐ和９４ｂｐ３种等位片段在中国汉族人群中没有发现。中国人中１２２ｂｐ和１２４ｂｐ片段（４７．９％）最为常见，分布于＜１１４ｂｐ的小片段较多，有１３种，占２７．９％；１２６～１３２ｂｐ的片段，共４种，占１０．５％。而在白种人中ＳＭ６等位片段集中分布于１２２ｂｐ和１２４ｂｐ（占７３．９０％），而＜１１４ｂｐ的小片段较少，仅有５种，占６．０％；在１２６～１３２ｂｐ间的片段仅２种，占１．４％。研究表明，二核苷酸重复在不同民族中存在差异。另外，观察了ＳＭ６在３个ＡＰＫＤ家系中传递情况，发现它是以孟德尔方式遗传的，并对１个与ＰＫＤ１连锁的家系中的风险成员进行了发病前的基因诊断。结果?Microsatellite SM6 is closely linked to PKD1 gene of APKD. To access its value in gene diagnosis, the polymorphism in 95 unrelated Chinese people of Han nation in Sichuan province was analysed by using PCR, PAGE and silver staining. The results showed that there were 24 kinds of alleles in Chinese Han people and the rate of heterozygote was 0.663 and PIC 0.08. These results suggest that there exits difference in the number of alleles and distribution between Chinese and Caucasian. The number of kinds of alleles in Chinese is greater than that of Caucasian by 8; 11 kinds of alleles were only observed in Chinese, but 3 kinds of alleles of 140bp, 136bp and 94bp were only observed in Caucasian. So there exits difference of dinucleotide repeat between these two nations, In addition, we have analysed 3 APKD families using SM6 and found that it transmits from one generation to another in Mendal inheritance; also we have made presymptomatic diagnosis of at risk members in one APKD family. Our results have proved that SM6 could be used as a valuable marker in gene linkage diagnosis and personal and related identification in forensic medicine.

关 键 词：成人 多囊肾病 基因诊断 SM6 多态性 

分 类 号：R692.120.4[医药卫生—泌尿科学]