脊髓性肌萎缩症基因区域内5号染色体的精细连锁图谱。
Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene.
作者信息
Melki J, Burlet P, Clermont O, Pascal F, Paul B, Abdelhak S, Sherrington R, Gurling H, Nakamura Y, Weissenbach J
机构信息
Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-12, Hôpital des Enfants-Malades, Paris, France.
出版信息
Genomics. 1993 Mar;15(3):521-4. doi: 10.1006/geno.1993.1103.
The genetic map in the region of human chromosome 5 that harbors the gene for autosomal recessive forms of spinal muscular atrophy (SMA) has been refined by a multilocus linkage study in 50 SMA-segregating families. Among six markers spanning 8 cM for combined sexes, four were shown to be tightly linked to the SMA locus. Multipoint linkage analysis was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for the SMA locus is between blocks AFM114ye7 (D5S465)/EF5.15 (D5S125) and MAP-1B/JK53 (D5S112) at a sex-combined genetic distance of 2.4 and 1.7 cM, respectively. Thus the SMA gene lies in the 4-cM region between these two blocks. This information is of primary importance for designing strategies for isolating the SMA gene.
通过对50个脊髓性肌萎缩症（SMA）分离家系进行多位点连锁研究，人类5号染色体上携带常染色体隐性形式脊髓性肌萎缩症（SMA）基因区域的遗传图谱得到了优化。在跨度为8厘摩（cM）的六个标记中，对于两性而言，有四个标记显示与SMA基因座紧密连锁。多点连锁分析用于确定SMA基因位置的最佳估计值。我们的数据表明，SMA基因座最可能的位置分别在AFM114ye7（D5S465）/EF5.15（D5S125）和MAP-1B/JK53（D5S112）两个区域之间，两性联合遗传距离分别为2.4厘摩和1.7厘摩。因此，SMA基因位于这两个区域之间4厘摩的范围内。该信息对于设计分离SMA基因的策略至关重要。
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