Defining new borders of the spinal muscular atrophy (SMA) candidate region by two new microsatellites and isolation of cDNAs
- Univ. of Bonn (Germany); and others
A high number of cosmids and phages were identified that contained di-, tri-, and tetranucleotide repeats. These clones were isolated from STSs that map to the SMA region as well as from three cosmid and one phage library that had been prepared from YACs which span the SMA candidate interval. We developed two new microsatellites, A31 (D5S823) and 95/23, which enabled us to define new borders of the SMA region and to reduce it to approximately 700 kb. Physically, the marker A31 maps to the overlapping region of the YACs y116, y55 and y122 at about 550 kb distal to the locus D5S435. A recombination in one SMA type I family places A31 proximal to the SMA gene. The multicopy microsatellite, 95/23, developed from a cosmid including the STS y97U revealed in a consanguine SMA type I family different alleles, while all proximal markers were heterozygous. This suggests a location of 95/23 distal to the SMA gene. Furthermore, we tested 157 German SMA families (100 SMA type I, 50 SMA type II and 20 SMA type III) for linkage disequilibrium with the marker AG1-CA which reveals no recombination with the SMA gene. We found in SMA type I families strong allelic association between the 100 bp allele and the SMA gene. In 7 families we got deletions within the AG1-CA microsatellite. On the way to isolate the SMA gene, we hybridized whole cosmid and YAC inserts to cDNA libraries of spinal cord, brain and muscle. Seven cDNAs were initially identified and cDNA walking was used to begin the isolation of whole transcribed sequences.
- OSTI ID:
- 134142
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0878
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
Similar Records
Molecular genetics of X-linked retinitis pigmentosa: Progress towards cloning the RP3 gene
Physical and transcriptional mapping of the spinal muscular atrophy disease gene region