Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene

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

DOI:https://doi.org/10.1006/geno.1993.1103· OSTI ID:6597122

Melki, J; Burlet, P; Clermont, O; Pascal, F; Paul, B; Abdelhak, S; Munnich, A ^[1]; Sherrington, R; Gurling, H ^[2]; Nakamura, Yusuke ^[3]; Weissenbach, J ^[4]; Lathrop, M ^[5]

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1. INSERM U-12, Paris (France)
2. University College, London (United Kingdom) Middlesex School of Medicine, London (United Kingdom)
3. Cancer Inst., Tokyo (Japan)
4. Institut Pasteur, Paris (France) Genethon, Evry (France)
5. Centre d'Etudes du Polymorphisme Humain, Paris (France)

The genetic map in the region of human chromosome 5 that harbors the gene for autosomal recessive forms of spinal muscular atrophy (SMA) has been refined by a multilocus linkage study in 50 SMA-segregating families. Among six markers spanning 8 cM for combined sexes, four were shown to be tightly linked to the SMA locus. Multipoing linkage analysis was used to establish the best estimate of the SMA gene location. The data suggest that the most likely location for the SMA locus is between blocks AFM114ye7 (D5S465)/EF5.15 (D5S125) and MAP-1B/JK53 (D5S112) at a sex-combined genetic distance of 2.4 and 1.7 cM, respectively. Thus the SMA gene lies in the 4-cM region between these two blocks. This information is of primary importance for designing strategies for isolating the SMA gene. 16 refs., 2 figs., 4 tabs.

• OSTI ID: 6597122
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 15:3; 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
SEX
SPINAL CORD