Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.
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.
Wirth
B
B
Institute of Human Genetics, Bonn, Germany.
el-Agwany
A
A
Baasner
A
A
Burghes
A
A
Koch
A
A
Dadze
A
A
Piechaczeck-Wappenschmidt
B
B
Rudnik-Schöneborn
S
S
Zerres
K
K
Schönling
J
J
D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003241:Consanguinity; D015342:DNA Probes / Q000737:chemistry / Q000235:genetics; D004276:DNA, Satellite / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics
D015342:DNA Probes; D004276:DNA, Satellite; D005819:Genetic Markers