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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 Four kinds of microsatellite markers linked to PKD2 and four genes linked to PKD1 in each member of one ADPKD family were detected by polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis. Genotyping. Then software-assisted construction of haplotype and speculation disease haplotype. The results showed that four microsatellites KG8, SM6, CW4 and CW2 closely linked to PKD1 were informative in this ADPKD pedigree. The three microsatellite DNAs D4S1563, D4S414 and D4S423 closely linked to PKD2 gene were informative. The putative haplotype suggests that the disease may be linked to PKD2 and not to PKD1 in this pedigree. Conclusion In this pedigree, there is phenotypic heterogeneity among affected members, and there is an early child patient. There are fewer pedigrees linked to PKD2. The reports of this pedigree show that there is a genetic heterogeneity of ADPKD in Chinese people. The abnormality of PKD2 may also cause ADPKD in Chinese. In addition, the phenomenon of premature inheritance was found, and the disease was transmitted by the mother. This suggests that progeny may be premature in pedigrees not linked to PKD1.