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 D. 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

doi:10.1006/geno.1994.1282

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 D. 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

Pediatrics

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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 Z_max = 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 language	English (US)
Pages (from-to)	394-402
Number of pages	9
Journal	Genomics
Volume	21
Issue number	2
DOIs	https://doi.org/10.1006/geno.1994.1282
State	Published - May 15 1994

ASJC Scopus subject areas

Genetics

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Burghes, A. H. M., Ingraham, S. E., McLean, M., Thompson, T. G., McPherson, J. D., Kote-Jarai, Z., Carpten, J. D., DiDonato, C. J., Ikeda, J. E., Surh, L., Wirth, B., Sargent, C. A., Ferguson-Smith, M. A., Fuerst, P., Moyzis, R. K., Grady, D. L., Zerres, K., Korneluk, R., MacKenzie, A., & 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

@article{f952a821a2ef4b07813931fae67e11ed,

title = "A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene",

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.",

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

year = "1994",

month = may,

day = "15",

doi = "10.1006/geno.1994.1282",

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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

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T1 - A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene

AU - Burghes, Arthur H M

AU - Ingraham, Susan E.

AU - McLean, Michael

AU - Thompson, Terri G.

AU - McPherson, John D.

AU - Kote-Jarai, Zsofia

AU - Carpten, John D.

AU - DiDonato, Christine J.

AU - Ikeda, Joh E.

AU - Surh, Linda

AU - Wirth, Brunhilde

AU - Sargent, Carole A.

AU - Ferguson-Smith, Malcolm A.

AU - Fuerst, Paul

AU - Moyzis, Robert K.

AU - Grady, Deborah L.

AU - Zerres, Klaus

AU - Korneluk, Robert

AU - MacKenzie, Alex

AU - Wasmuth, John J.

PY - 1994/5/15

Y1 - 1994/5/15

N2 - 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.

AB - 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.

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JF - Genomics

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A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene

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