Sun Yan, Ding Lan, Wang You-qi, Zhou Hong-yuan, Zhang Si-zhong
Department of Medical Genetics, West China Hospital, Sichuan University, PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct;22(5):554-6.
To study the genetic heterogeneity of autosomal dominant polycystic kidney disease (ADPKD) in Chinese.
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.
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.
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 eterogeneous. 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 early-onset of the disease in child.
研究中国常染色体显性遗传性多囊肾病（ADPKD）的遗传异质性。
作者运用聚合酶链反应（PCR）和非变性聚丙烯酰胺凝胶电泳，分别分析了一个中国ADPKD家系中与PKD1或PKD2基因紧密连锁的8个微卫星标记。
在该家系中发现7个提供信息的标记，包括与PKD1紧密连锁的KG8、SM6、CW4和CW2，以及与PKD2连锁的D4S1563、D4S414和D4S423。基因分型后，用Cyrillic 2.0估计单倍型，基于连锁的分析表明该疾病除了与PKD2外，与PKD1无连锁关系。
在中国，这个非PKD1家系是第二个，但却是首个报道的显示ADPKD遗传异质性的PKD2家系。在该家系中，患病母亲传递疾病，且患病成员的表型是异质的。此外，现有的“遗传早现”现象以及该家系中一名儿童患病表明，非PKD1连锁家系的患儿可能发病较早。
