常染色体显性多囊肾病中的单倍型分析
Haplotype analysis in autosomal dominant polycystic kidney disease.
作者信息
Pound S E, Thomas S, Snarey A, Macnicol A M, Watson M L, Pignatelli P M, Frischauf A M, Harris P C, Wright A F
机构信息
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
出版信息
J Med Genet. 1995 Mar;32(3):208-12. doi: 10.1136/jmg.32.3.208.
Abstract
Haplotype analysis was performed in 35 autosomal dominant polycystic kidney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. The identification of recombinants close to the PKD1 gene on chromosome 16p indicates that PKD1 lies between CMM65 distally and 26-6 proximally. In addition, three unlinked (PKD2) families and two families with potential new mutation were identified.
摘要
对35个常染色体显性多囊肾病（ADPKD）家系进行单倍型分析，这些家系用靠近PKD1基因座的13个标记进行分型。在16号染色体短臂上靠近PKD1基因处发现重组体，这表明PKD1基因位于远端的CMM65和近端的26 - 6之间。此外，还鉴定出3个非连锁（PKD2）家系和2个具有潜在新突变的家系。
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