High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.

K.E. Morrison; R.J. Daniels; G.K. Suthers; G.A. Flynn; M.J. Francis; V.J. Buckle; K.E. Davies

High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.

K.E. Morrison, R.J. Daniels, G.K. Suthers, G.A. Flynn, M.J. Francis, V.J. Buckle, K.E. Davies

School of Medicine, Dentistry and Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

41 Citations (Scopus)

Abstract

Although autosomal recessive spinal muscular atrophy (SMA) has been mapped to chromosome 5q12-q13, there is for this region no genetic map based on highly informative markers. In this study we present the mapping of two previously reported microsatellite markers in 40 CEPH and 31 SMA pedigrees. We also describe the isolation of a new microsatellite marker at the D5S112 locus. The most likely order of markers (with recombination fractions given in parentheses) is 5cen-D5S6-(.02)-D5S125-(.04)-(JK53CA1/2,D5S11 2)-(.04)-D5S39-qter. The relative order of D5S6, D5S112, and D5S39 was confirmed by in situ hybridization. Multipoint linkage analysis in 31 SMA families indicates that the SMA locus lies in the 6-cM interval between D5S6 and JK53CA1/2, D5S112.

Original language	English
Pages (from-to)	520-527
Number of pages	8
Journal	The American Journal of Human Genetics
Volume	50
Issue number	3
Publication status	Published - 01 Mar 1992

Cite this

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title = "High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.",

abstract = "Although autosomal recessive spinal muscular atrophy (SMA) has been mapped to chromosome 5q12-q13, there is for this region no genetic map based on highly informative markers. In this study we present the mapping of two previously reported microsatellite markers in 40 CEPH and 31 SMA pedigrees. We also describe the isolation of a new microsatellite marker at the D5S112 locus. The most likely order of markers (with recombination fractions given in parentheses) is 5cen-D5S6-(.02)-D5S125-(.04)-(JK53CA1/2,D5S11 2)-(.04)-D5S39-qter. The relative order of D5S6, D5S112, and D5S39 was confirmed by in situ hybridization. Multipoint linkage analysis in 31 SMA families indicates that the SMA locus lies in the 6-cM interval between D5S6 and JK53CA1/2, D5S112.",

author = "K.E. Morrison and R.J. Daniels and G.K. Suthers and G.A. Flynn and M.J. Francis and V.J. Buckle and K.E. Davies",

year = "1992",

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language = "English",

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pages = "520--527",

journal = "The American Journal of Human Genetics",

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TY - JOUR

T1 - High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.

AU - Morrison, K.E.

AU - Daniels, R.J.

AU - Suthers, G.K.

AU - Flynn, G.A.

AU - Francis, M.J.

AU - Buckle, V.J.

AU - Davies, K.E.

PY - 1992/3/1

Y1 - 1992/3/1

N2 - Although autosomal recessive spinal muscular atrophy (SMA) has been mapped to chromosome 5q12-q13, there is for this region no genetic map based on highly informative markers. In this study we present the mapping of two previously reported microsatellite markers in 40 CEPH and 31 SMA pedigrees. We also describe the isolation of a new microsatellite marker at the D5S112 locus. The most likely order of markers (with recombination fractions given in parentheses) is 5cen-D5S6-(.02)-D5S125-(.04)-(JK53CA1/2,D5S11 2)-(.04)-D5S39-qter. The relative order of D5S6, D5S112, and D5S39 was confirmed by in situ hybridization. Multipoint linkage analysis in 31 SMA families indicates that the SMA locus lies in the 6-cM interval between D5S6 and JK53CA1/2, D5S112.

AB - Although autosomal recessive spinal muscular atrophy (SMA) has been mapped to chromosome 5q12-q13, there is for this region no genetic map based on highly informative markers. In this study we present the mapping of two previously reported microsatellite markers in 40 CEPH and 31 SMA pedigrees. We also describe the isolation of a new microsatellite marker at the D5S112 locus. The most likely order of markers (with recombination fractions given in parentheses) is 5cen-D5S6-(.02)-D5S125-(.04)-(JK53CA1/2,D5S11 2)-(.04)-D5S39-qter. The relative order of D5S6, D5S112, and D5S39 was confirmed by in situ hybridization. Multipoint linkage analysis in 31 SMA families indicates that the SMA locus lies in the 6-cM interval between D5S6 and JK53CA1/2, D5S112.

M3 - Article

SN - 0002-9297

VL - 50

SP - 520

EP - 527

JO - The American Journal of Human Genetics

JF - The American Journal of Human Genetics

IS - 3

ER -

High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.

Abstract

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