Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B

Journal Article · Mon Feb 01 04:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1069· OSTI ID:6619647

Soares, V M; Brzustowicz, L M; Kleyn, P W; Knowles, J A; Palmer, D A; Asokan, S; Penchaszadeh, G K; Gilliam, T C ^[1]; Munsat, T L ^[2]

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1. New York State Psychiatric Inst., New York (United States)
2. Tufts Univ.-New England Medical Center, Boston, MA (United States)

The childhood-onset SMA locus has been mapped to chromosome 5q13, in a region bounded by the proximal locus, D5S6, and the closely linked distal loci, D5S112 and MAP1B. We now describe a highly polymorphic, tightly linked microsatellite marker (D5S435) that is very likely the closet proximal marker to the SMA locus. Multipoint linkage analysis firmly establishes the following order of markers at 5q13; centromere-D5S76-D5S6-D5S435-MAP1B/D5S112-D5S39-telomere. The data indicate that SMA resides in an approximately 0.7-cM (range 01.-2.1) region between D5S435 and MAP1B. This finding reduces by approximately fourfold the genetic region that most likely harbors the SMA locus and will facilitate the physical mapping and cloning of the disease gene region. 24 refs., 3 figs., 1 tab.

• OSTI ID: 6619647
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 15:2; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ATROPHY
CHROMOSOMES
CLONING
DISEASES
GENETIC MAPPING
HUMAN CHROMOSOME 5
HUMAN CHROMOSOMES
MAPPING
MUSCLES
NERVOUS SYSTEM DISEASES
PATHOLOGICAL CHANGES