Kumar S, Kimberling W J, Gabow P A, Kenyon J B
Department of Genetics, Boys Town National Research Hospital, Omaha, NE 68131.
Hum Genet. 1991 Jun;87(2):129-33. doi: 10.1007/BF00204167.
Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred, unlinked to chromosome 16, with over 250 members was studied using both DNA and classical markers. In total, 29 informative marker loci on 11 autosomes have been analyzed for linkage with PKD. The data significantly exclude the linkage with disease locus from 17 marker loci and show no evidence of close linkage with the other loci.
多囊肾病（PKD）是一种常见的常染色体显性遗传病，由至少两个不同基因位点的突变引起。PKD1基因已定位于16号染色体短臂。人类基因组中第二个基因位点的位置尚不清楚。对一个与16号染色体不连锁的、有250多名成员的大型PKD家族进行了DNA和经典标记研究。总共分析了11条常染色体上的29个信息性标记位点与PKD的连锁关系。数据显著排除了17个标记位点与疾病位点的连锁关系，且没有证据表明与其他位点有紧密连锁。
