De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
| Autor: | Jean Weissenbach, Denis Le Paslier, Philippe Millasseau, Massimo Zeviani, Lydie Burglen, Philippe Burlet, Daniel Cohen, Sophie Reboullet, Judith Melki, Suzie Lefebvre, Olivier Clermont, Bernard Bénichou, Arnold Munnich |
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| Přispěvatelé: | Centre d'Etude du Polymorphisme Humain (CEPH), Fondation Jean Dausset-Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7) |
| Jazyk: | angličtina |
| Rok vydání: | 1994 |
| Předmět: |
Genetic Markers
Male Spinal Molecular Sequence Data Locus (genetics) Gene mutation Biology Spinal Muscular Atrophies of Childhood Polymerase Chain Reaction Chromosomes Repetitive Sequences Muscular Atrophy Spinal 03 medical and health sciences 0302 clinical medicine Gene mapping medicine Humans Allele Polymorphism Chromosomes Artificial Yeast ComputingMilieux_MISCELLANEOUS Alleles Base Sequence Female Polymorphism Restriction Fragment Length Repetitive Sequences Nucleic Acid Chromosomes Human Pair 5 Gene Deletion 030304 developmental biology Genetics 0303 health sciences Multidisciplinary Nucleic Acid Spinal muscular atrophy Low copy repeats SMA medicine.disease Spinal muscular atrophies Yeast Muscular Atrophy Restriction Fragment Length [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Artificial Pair 5 030217 neurology & neurosurgery Human |
| Zdroj: | Science Science, American Association for the Advancement of Science, 1994, 264 (5164), pp.1474-1477. ⟨10.1126/science.7910982⟩ Scopus-Elsevier |
| ISSN: | 0036-8075 1095-9203 |
| DOI: | 10.1126/science.7910982⟩ |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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