Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.
Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.
复制标题
将脊髓性肌萎缩症基因座细化至 D5S435 和 MAP1B 之间的间隔。
DOI：
10.1006/geno.1993.1069
复制
发表时间：
1993
期刊：
影响因子：
4.4
通讯作者：
Gilliam,TC
中科院分区：
文献类型：
--
作者：
Soares,VM;Brzustowicz,LM;Kleyn,PW;Knowles,JA;Palmer,DA;Asokan,S;Penchaszadeh,GK;Munsat,TL;Gilliam,TC
儿童期发病的SMA基因座已被映射到染色体5 q13，在一个区域的近端基因座，D5 S6，和紧密连锁的远端基因座，DSS 112和MAP 1B。我们现在描述一个高度多态性，紧密连锁的微卫星标记（D5 S435），这是非常可能的最接近的标记SMA位点。多点连锁分析确定了5 q13上的标记顺序：着丝粒-D5 S76-D5 S6-D5 S435-MAP 1B/D5 S112-D5 S39-端粒。数据表明，SMA位于D5 S435和MAP 1B之间的约0.7-cM（范围0.1-2.1）区域。这一发现减少了大约四倍的遗传区域，最有可能窝藏SMA基因座，并将促进物理映射和疾病基因区的克隆。
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, DSS112 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.