A Multicopy Dinucleotide Marker That Maps Close to the Spinal Muscular Atrophy Gene

Arthur H.M. Burghes, Susan E. Ingraham, Michael McLean, Terri G. Thompson, John Douglas Mcpherson, Zsofia Kote-Jarai, John D. Carpten, Christine J. DiDonato, Joh E. Ikeda, Linda Surh, Brunhilde Wirth, Carole A. Sargent, Malcolm A. Ferguson-Smith, Paul Fuerst, Robert K. Moyzis, Deborah L. Grady, Klaus Zerres, Robert Korneluk, Alex MacKenzie, John J. Wasmuth

Research output: Contribution to journalArticle

51 Citations (Scopus)

Abstract

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. We 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 Zmax = 34.42 at θ = 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 U.S. 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.

Original languageEnglish (US)
Pages (from-to)394-402
Number of pages9
JournalGenomics
Volume21
Issue number2
DOIs
StatePublished - May 15 1994
Externally publishedYes

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Spinal Muscular Atrophy
Genes
Alleles
Haplotypes
Dinucleotide Repeats
Lod Score
Motor Neurons
Population
Chromosomes

ASJC Scopus subject areas

  • Genetics

Cite this

Burghes, A. H. M., Ingraham, S. E., McLean, M., Thompson, T. G., Mcpherson, J. D., Kote-Jarai, Z., ... Wasmuth, J. J. (1994). A Multicopy Dinucleotide Marker That Maps Close to the Spinal Muscular Atrophy Gene. Genomics, 21(2), 394-402. https://doi.org/10.1006/geno.1994.1282

A Multicopy Dinucleotide Marker That Maps Close to the Spinal Muscular Atrophy Gene. / Burghes, Arthur H.M.; Ingraham, Susan E.; McLean, Michael; Thompson, Terri G.; Mcpherson, John Douglas; Kote-Jarai, Zsofia; Carpten, John D.; DiDonato, Christine J.; Ikeda, Joh E.; Surh, Linda; Wirth, Brunhilde; Sargent, Carole A.; Ferguson-Smith, Malcolm A.; Fuerst, Paul; Moyzis, Robert K.; Grady, Deborah L.; Zerres, Klaus; Korneluk, Robert; MacKenzie, Alex; Wasmuth, John J.

In: Genomics, Vol. 21, No. 2, 15.05.1994, p. 394-402.

Research output: Contribution to journalArticle

Burghes, AHM, Ingraham, SE, McLean, M, Thompson, TG, Mcpherson, JD, Kote-Jarai, Z, Carpten, JD, DiDonato, CJ, Ikeda, JE, Surh, L, Wirth, B, Sargent, CA, Ferguson-Smith, MA, Fuerst, P, Moyzis, RK, Grady, DL, Zerres, K, Korneluk, R, MacKenzie, A & Wasmuth, JJ 1994, 'A Multicopy Dinucleotide Marker That Maps Close to the Spinal Muscular Atrophy Gene', Genomics, vol. 21, no. 2, pp. 394-402. https://doi.org/10.1006/geno.1994.1282
Burghes AHM, Ingraham SE, McLean M, Thompson TG, Mcpherson JD, Kote-Jarai Z et al. A Multicopy Dinucleotide Marker That Maps Close to the Spinal Muscular Atrophy Gene. Genomics. 1994 May 15;21(2):394-402. https://doi.org/10.1006/geno.1994.1282
Burghes, Arthur H.M. ; Ingraham, Susan E. ; McLean, Michael ; Thompson, Terri G. ; Mcpherson, John Douglas ; Kote-Jarai, Zsofia ; Carpten, John D. ; DiDonato, Christine J. ; Ikeda, Joh E. ; Surh, Linda ; Wirth, Brunhilde ; Sargent, Carole A. ; Ferguson-Smith, Malcolm A. ; Fuerst, Paul ; Moyzis, Robert K. ; Grady, Deborah L. ; Zerres, Klaus ; Korneluk, Robert ; MacKenzie, Alex ; Wasmuth, John J. / A Multicopy Dinucleotide Marker That Maps Close to the Spinal Muscular Atrophy Gene. In: Genomics. 1994 ; Vol. 21, No. 2. pp. 394-402.
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