Soares V M, Brzustowicz L M, Kleyn P W, Knowles J A, Palmer D A, Asokan S, Penchaszadeh G K, Munsat T L, Gilliam T C
Department of Psychiatry, College of Physicians and Surgeons of Columbia University, New York, New York.
Genomics. 1993 Feb;15(2):365-71. doi: 10.1006/geno.1993.1069.
The childhood-onset SMA locus has been mapped to chromosome 5q13, in a region bounded by the proximal locus, D5S6, and the closely linked distal loci, D5S112 and MAP1B. We now describe a highly polymorphic, tightly linked microsatellite marker (D5S435) that is very likely the closest proximal marker to the SMA locus. Multipoint linkage analysis firmly establishes the following order of markers at 5q13: centromere-D5S76-D5S6-D5S435-MAP1B/D5S112- D5S39-telomere. The data indicate that SMA resides in an approximately 0.7-cM (range 0.1-2.1) region between D5S435 and MAP1B. This finding reduces by approximately fourfold the genetic region that most likely harbors the SMA locus and will facilitate the physical mapping and cloning of the disease gene region.
儿童期发病的脊髓性肌萎缩症（SMA）基因座已被定位到5号染色体的5q13区域，该区域由近端基因座D5S6以及紧密连锁的远端基因座D5S112和MAP1B界定。我们现在描述一种高度多态性、紧密连锁的微卫星标记（D5S435），它很可能是最接近SMA基因座的近端标记。多点连锁分析明确确定了5q13区域标记的以下顺序：着丝粒-D5S76-D5S6-D5S435-MAP1B/D5S112-D5S39-端粒。数据表明，SMA位于D5S435和MAP1B之间大约0.7厘摩（范围0.1 - 2.1）的区域内。这一发现使最有可能包含SMA基因座的遗传区域缩小了约四倍，并将有助于疾病基因区域的物理图谱绘制和克隆。
