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  • Title: Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.
    Author: Wirth B, el-Agwany A, Baasner A, Burghes A, Koch A, Dadze A, Piechaczeck-Wappenschmidt B, Rudnik-Schöneborn S, Zerres K, Schönling J.
    Journal: Eur J Hum Genet; 1995; 3(1):56-60. PubMed ID: 7767657.
    Abstract:
    The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has recently been mapped between D5S629 and D5S557. We report here a new single-locus microsatellite A31 (D5S823) and two multicopy microsatellites 97T-CA and 95/23-CA. The marker A31 maps to the region of overlap between YACs y116, y55 and y122, distal to D5S629; 97T-CA originates from a cosmid corresponding to the STS 97T, localized distally to A31, while 95/23-CA derives from a cosmid corresponding to the STS 97U, localized proximally to D5S557. We tested all our key recombinant families with these markers. In one type I/II SMA family, a recombinant was found that placed the SMA locus distal to D5S823. Homozygosity mapping in a consanguineous type I SMA family indicates that the SMA gene lies proximal to 95/23-CA. Thus, the two new markers, A31 and 95/23-CA further refine the SMA gene to an approximately 750-kb interval.
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