一个可能与PKD2基因连锁的常染色体显性多囊肾病家系  

A Chinese autosomal dominant polycystic kidney disease family probably related to?PKD2 gene

作　　者：孙岩[1] 丁兰[1] 王有麒[2] 周宏远[3] 张思仲[1] 

机构地区：[1]四川大学华西医院医学遗传室,人类疾病生物治疗国家重点实验室人类疾病基因组学研究室,成都610041 [2]四川大学华西医院泌尿外科,成都610041 [3]四川大学华西医院肿瘤中心,成都610041

出　　处：《中华医学遗传学杂志》2005年第5期554-556,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(39770347)~~

摘　　要：目的研究常染色体显性多囊肾病(autosomal dominant polycystic kidney disease,ADPKD)在中国人中的遗传异质性。方法采用聚合酶链反应(polymerase chain reaction,PCR)、非变性聚丙烯酰胺凝胶电泳,检测了1个ADPKD家系各成员中与PKD1基因连锁的4种和与PKD2连锁的4种微卫星标记的基因分型。然后以软件辅助构建单倍型,并推测疾病单倍型。结果发现该ADPKD家系中,与PKD1紧密连锁的4个微卫星KG8、SM6、CW4和CW2是有信息的;与PKD2基因紧密连锁的3种微卫星DNA D4S1563、D4S414和D4S423是有信息的。推定的单倍型提示,在这个家系中疾病可能与PKD2连锁,而不与PKD1连锁。结论在此家系中,受累成员间存在表型异质性,并且有一个早发的儿童患者。与PKD2连锁的家系较少,这个家系的报道表明中国人中存在ADPKD的遗传异质性,PKD2的异常也可能会引起中国人ADPKD的发生。另外,发现有遗传早现现象存在,且疾病通过母亲传递。这提示在与PKD1不连锁的家系中后代可能早发病。Objective To study the genetic heterogeneity of autosomal dominant polycystic kidney disease （ADPKD） in Chinese. Methods Using polymerase chain reaction （PCR） and non-denatured polyacrylamide gel electrophoresis, the authors analyzed eight microsatellite markers closely linked to PKD1 or PKD2 genes respectively in a Chinese ADPKD family. Results Seven informative markers were found in this family, including KG8, SM6, CW4 and CW2 which are tightly linked to PKD1 , and D4S1563, D4S414 and D4S423 which are linked to PKD2 . After the process of genotyping, the haplotypes were estimated with Cyrillic 2.0, and the linkage-based analysis suggested that the disease is not linked to PKD1 other than PKD2 . Conclusion In China this non- PKD1 family is the second one, but it is the first reported PKD2 family showing the genetic heterogeneity of ADPKD in Chinese. In the family the affected mother transmits the disease and the affected members＇ phenotypes are heterogeneous. In addition, the existing “anticipation” and the presence of the disease in a child of this family suggest that non- PKD1 linked families may have earlyonset of the disease in child.

关 键 词：PKD2基因 基因连锁 常染色体显性多囊肾病 遗传因素 聚合酶链反应 

分 类 号：R692.1[医药卫生—泌尿科学]