Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies

Journal Article · Fri Jan 01 04:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1018· OSTI ID:6707216

Wirth, B; Voosen, B; Roehrig, D; Piechaczek, B; Ruonk-Schoeneborn, S; Zerres, K ^[1]; Knapp, M ^[2]

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1. Institute of Human Genetics, Bonn (Germany)
2. Institute of Medical Statistics, Bonn (Germany)

The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q12.2-q13, within a genetic distance of about 6 cM, and is proximally flanked by the locus D5S6 and distally by D5S112. Here, we report linkage analyses in 64 SMA families with nine polymorphic markers closely linked to the SMA gene which allowed us to narrow the SMA region to about 4cM and to define a new proximal genetic border by the locus D5S125 EF(TG/AG)[sub n]. Based on haplotype analysis and specific recombination event,the following order of the loci was determined: 5cen- D5S76-D5S6-D5S125-SMA-(5[prime]MAP-1B-3[prime]MApP[center dot]1 B)/D5S112-JK53CAI/2-(D5S39-D5S127)-5qter. The location of the SMA gene between D5Sl25 and MAP[center dot]1B is further supported by multipoint linkage analysis. 18 refs., 3 figs., 4 tabs.

• OSTI ID: 6707216
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 15:1; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ATROPHY
CENTRAL NERVOUS SYSTEM
CHROMOSOMES
DISTANCE
GENETIC MAPPING
HUMAN CHROMOSOME 5
HUMAN CHROMOSOMES
MAPPING
MUSCLES
NERVOUS SYSTEM
PATHOLOGICAL CHANGES
RECOMBINATION
SPINAL CORD