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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.

Type

Journal article

Journal

American journal of human genetics

Publication Date

03/1992

Volume

50

Pages

520 - 527

Addresses

Molecular Genetics Group, John Radcliffe Hospital, Oxford, England.

Keywords

Chromosomes, Fungal, Chromosomes, Human, Pair 5, X Chromosome, Humans, Spinal Muscular Atrophies of Childhood, DNA, DNA, Satellite, Genetic Markers, Chromosome Mapping, Cloning, Molecular, Polymerase Chain Reaction, Nucleic Acid Hybridization, Pedigree, Base Sequence, Lod Score, Molecular Sequence Data, Infant, Female, Male, Genetic Linkage