De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

Journal Article · Fri Jun 03 00:00:00 EDT 1994 · Science (Washington, D.C.); (United States)

DOI:https://doi.org/10.1126/science.7910982· OSTI ID:7076039

Melki, J; Lefebvre, S; Burglen, L; Burlet, P; Clermont, O; Reboullet, S; Benichou, B; Zeviani, M ^[1]; Millasseau, P ^[2]; Le Paslier, D ^[3]

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1. Hopital des Enfants-Malades, Paris (France)
2. Genethon, Evry (France)
3. Centre d'Etudes due Polymorphisme Humain, Paris (France)

Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies are divided into severe (type I) and mild forms (types II and III). By a combination of genetic and physical mapping, a yeast artificial chromosome contig of the 5q13 region spanning the disease locus was constructed that showed the presence of low copy repeats in this region. Allele segregation was analyzed at the closest genetic loci detected by markers C212 and C272 in 201 SMA families. Inherited and de novo deletions were observed in nine unrelated SMA patients. Moreover, deletions were strongly suggested in at least 18 percent of SMA type I patients by the observation of marked heterozygosity deficiency for the loci studied. These results indicate that deletion events are statistically associated with the severe form of spinal muscular atrophy. 25 refs., 5 figs.

• OSTI ID: 7076039
• Journal Information: Science (Washington, D.C.); (United States), Vol. 264:5164; ISSN 0036-8075
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN CHROMOSOME 5
GENETIC MAPPING
MUSCLES
ATROPHY
SPINAL CORD
HEREDITARY DISEASES
GENE MUTATIONS
CENTRAL NERVOUS SYSTEM
CHROMOSOMES
DISEASES
HUMAN CHROMOSOMES
MAPPING
MUTATIONS
NERVOUS SYSTEM
PATHOLOGICAL CHANGES
550400* - Genetics
550900 - Pathology