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

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.
Authors:
; ; ; ; ; ; ;  [1] ;  [2] ;  [3]
  1. (Hopital des Enfants-Malades, Paris (France))
  2. (Genethon, Evry (France))
  3. (Centre d'Etudes due Polymorphisme Humain, Paris (France))
Publication Date:
OSTI Identifier:
7076039
Resource Type:
Journal Article
Resource Relation:
Journal Name: Science (Washington, D.C.); (United States); Journal Volume: 264:5164
Country of Publication:
United States
Language:
English
Subject:
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