Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups.
Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups.
复制标题
人类 4 号染色体连锁分析：排除常染色体显性视网膜色素变性 (ADRP) 并检测新的连锁群。
DOI：
10.1159/000132758
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
Sparkes,RS
中科院分区：
文献类型：
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作者：
Daiger,SP;Humphries,MM;Giesenschlag,N;Sharp,E;McWilliam,P;Farrer,J;Bradley,D;Kenna,P;McConnell,DJ;Sparkes,RS
作为我们正在进行的退行性视网膜疾病连锁研究的一部分，我们检测了两个常染色体显性视网膜色素变性（ADRP）大家庭中4号染色体的7个DNA标记和2个经典遗传标记。我们的目标是：(1)检测或排除ADRP与4号染色体大部分标记的连锁；(2)提供有关该染色体连锁图谱的有用新信息。我们的结果排除了超过82%的4号染色体ADRP连锁。我们发现了4种新的连锁关系：K082 （D4S10）和G1E5 （D4S21）在21 cM的距离上的松散连锁；4F2 （D4S18）与GC蛋白在19 cM处的松散连锁；B3D （D4S44）、B5A （D4S40）与MNS血型紧密连锁（即无重组）；4F2和GDS5 （D4S23）之间的紧密联系。这些数据与先前报道的数据相结合，将ADRP排除在大约35%的人类基因组之外。
As part of our ongoing linkage studies of degenerative retinal diseases, we tested seven DNA markers and two classical genetic markers from chromosome 4 in two extended families with autosomal dominant retinitis pigmentosa (ADRP). Our goals were (1) to detect or exclude linkage of ADRP to markers spanning most of chromosome 4 and (2) to contribute useful new information regarding the linkage map of this chromosome. Our results exclude linkage of ADRP from more than 82% of chro mosome 4. We detected four new linkage relationships: loose linkage of K082 (D4S10) and G1E5 (D4S21) at a distance of 21 cM; loose linkage of 4F2 (D4S18) and GC protein at a distance of 19 cM; tight linkage (i.e., no recombinants) between B3D (D4S44), B5A (D4S40), and the MNS blood group; and tight linkage between 4F2 and GDS5 (D4S23). These data, combined with previously reported data, exclude ADRP from approximately 35% of the human genome.