[Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies].

Title[Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies].
Publication TypeJournal Article
Year of Publication1994
AuthorsMelki, J, Lefebvre, S, Bürglen, L, Burlet, P, Clermont, O, Millasseau, P, Reboulet, S, Benichou, B, Zeviani, M, Le Paslier, D
JournalC R Seances Soc Biol Fil
Volume188
Issue5-6
Pagination495-8
Date Published1994
ISSN0037-9026
KeywordsChromosome Mapping, Chromosomes, Human, Pair 5, Female, Gene Deletion, Humans, Male, Repetitive Sequences, Nucleic Acid, Spinal Muscular Atrophies of Childhood
Abstract

Spinal muscular atrophies (SMA) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood SMAs are divided into severe (type I) and mild forms (types II and III). By a combination of genetic and physical mapping, a YAC 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 10 SMA patients. Moreover, deletions were strongly suggested in at least 18% 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 SMA.

Alternate JournalC. R. Seances Soc. Biol. Fil.
Citation Key1437
PubMed ID7780792