常染色体显性遗传性视网膜色素变性（RP）与淀粉酶（AMY2）之间可能存在的基因连锁关系：1号染色体上存在RP基因座的证据
Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1.
作者信息
Spence M A, Sparkes R S, Heckenlively J R, Pearlman J T, Zedalis D, Sparkes M, Crist M, Tideman S
出版信息
Am J Hum Genet. 1977 Jul;29(4):397-404.
Abstract
A linkage analysis is reported for three branches of a single family segregating for autosomal dominant retinitis pigmentosa. A statistically significant lod score of 3.9 is obtained for the RP locus and AMY2 at a recombination frequency of 1%. This linkage indicates that the RP locus is on the no. 1 chromosome since the AMY2 locus has been placed on the short arm of 1. Lod scores are reported for four other loci on chromosome 1; none of these achieve statistical significance. Analyses are reported for 23 additional autosomal markers and close linkage with RP can be excluded for a number of these.
摘要
本文报道了一个单一家庭中三个分支的连锁分析，该家庭患有常染色体显性遗传性视网膜色素变性。在重组频率为1%时，视网膜色素变性（RP）基因座与AMY2的对数优势（lod）得分为3.9，具有统计学意义。这种连锁表明RP基因座位于1号染色体上，因为AMY2基因座已定位在1号染色体短臂上。还报道了1号染色体上其他四个基因座的lod得分；这些均未达到统计学意义。此外，还对23个常染色体标记进行了分析，其中许多标记与RP的紧密连锁可以排除。
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