These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies].
    Author: Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboulet S, Benichou B, Zeviani M, Le Paslier D.
    Journal: C R Seances Soc Biol Fil; 1994; 188(5-6):495-8. PubMed ID: 7780792.
    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.
    [Abstract] [Full Text] [Related] [New Search]