Science · 1994 · 316 citations · 19 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersGenetic SyndromesMendelian DisordersNeurogenetic DisordersSpinal Muscular AtrophyStructural Chromosome AbnormalitiesAllele SegregationAutosomal Recessive InheritanceCystic Fibrosis GeneticsDeletion EventsHeterozygosity DeficitHeterozygosity EstimationPediatric Spinal Muscular AtrophyPhysical Genome Mapping
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.
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Fluorescence detection in automated DNA sequence analysis
Lloyd M. Smith, Jane Z. Sanders, Robert Kaiser et al. · Nature · 1986 · 1.7K citations