一个患有X连锁遗传性腓骨肌萎缩症的家族中的连锁关系。
Linkage in a family with X-linked Charcot-Marie-Tooth disease.
作者信息
Haites N, Fairweather N, Clark C, Kelly K F, Simpson S, Johnston A W
机构信息
Department of Genetics, University of Aberdeen, Scotland, UK.
出版信息
Clin Genet. 1989 Jun;35(6):399-403. doi: 10.1111/j.1399-0004.1989.tb02964.x.
The gene for the X-linked form of Charcot-Marie-Tooth disease (CMT Peroneal Muscular Atrophy, X-linked: McKusick No. 30280) has been shown in a single family to be linked to DXYS1 with a lod score of 4.55 at a recombination fraction of 0.03 and to PGK1 with a lod score of 3.34 at zero recombination. This is in agreement with previous work based on several families. Pooled data from this family and 7 previously reported families give a maximum lod score of 12.04 at theta max of 0.05 for linkage between CMTX and DXYS1 loci.
X连锁型夏科-马里-图斯病（CMT腓骨肌萎缩症，X连锁：麦库西克编号30280）的基因在一个家族中已被证明与DXYS1连锁，在重组率为0.03时lod值为4.55，与PGK1在零重组时lod值为3.34。这与基于多个家族的先前研究结果一致。该家族与之前报道的7个家族的汇总数据显示，CMTX与DXYS1位点之间连锁，在θ最大值为0.05时最大lod值为12.04。
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