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

TitleDe novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
Publication TypeJournal Article
Year of Publication1994
AuthorsMelki, J, Lefebvre, S, Bürglen, L, Burlet, P, Clermont, O, Millasseau, P, Reboullet, S, Benichou, B, Zeviani, M, Le Paslier, D
Date Published1994 Jun 03
KeywordsAlleles, Base Sequence, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 5, Female, Gene Deletion, Genetic Markers, Humans, Male, Molecular Sequence Data, Muscular Atrophy, Spinal, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Repetitive Sequences, Nucleic Acid, Spinal Muscular Atrophies of Childhood

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.

Alternate JournalScience
Citation Key10.1126/science.7910982
PubMed ID7910982