A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene
- Ohio State Univ., Columbus, OH (United States)
- Children's Hospital of Eastern Ontario, Ottawa (Canada)
- Univ. of California, Irvine, CA (United States)
- Tokhai Univ. School of Medicine, Isehara City (Japan)
- Institute for Human Genetics, Bonn (Germany); and others
Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. The interval containing the SMA gene has been defined by linkage analysis as 5qcen-D5S435-SMA-D5S557-5qter. The authors have isolated a new dinucleotide repeat marker, CATT1, that lies between these two closest markers. The marker CATT1 has 16 alleles and is highly polymorphic. The marker can have 1 to 4 (or more) copies per chromosome, giving rise to individuals with up to 8 (or more) alleles. All of the subloci map between the markers D5S557 and D5S435 and lie in close proximity to one another. The marker CATT1 is linked to the SMA gene with a lod score of Z[sub max] = 34.42 at [theta] = 0 and crosses all available recombinants. Certain alleles occurred more frequently in either the SMA or normal populations, indicating significant allelic association between CATT1 and the SMA locus. Haplotype analysis combining US and Canadian SMA families reveals that one haplotype group (VII) occurs significantly more frequently in the SMA population than in the normal. This confirms the allelic association of CATT1 with the SMA locus. 37 refs., 4 figs., 3 tabs.
- OSTI ID:
- 6949634
- Journal Information:
- Genomics; (United States), Vol. 21:2; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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