Publication Date:
1994-06-03
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Melki, J -- Lefebvre, S -- Burglen, L -- Burlet, P -- Clermont, O -- Millasseau, P -- Reboullet, S -- Benichou, B -- Zeviani, M -- Le Paslier, D -- New York, N.Y. -- Science. 1994 Jun 3;264(5164):1474-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Unite de Recherches sur les Handicaps Genetiques de l'Enfant, INSERM U-393, Hopital des Enfants-Malades, Paris, France.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7910982" target="_blank"〉PubMed〈/a〉
Keywords:
Alleles
;
Base Sequence
;
Chromosomes, Artificial, Yeast
;
*Chromosomes, Human, Pair 5
;
Female
;
*Gene Deletion
;
Genetic Markers
;
Humans
;
Male
;
Molecular Sequence Data
;
Muscular Atrophy, Spinal/*genetics
;
Polymerase Chain Reaction
;
Polymorphism, Restriction Fragment Length
;
Repetitive Sequences, Nucleic Acid
;
Spinal Muscular Atrophies of Childhood/*genetics
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
