Article
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
Nature genetics - 1 Dec 1992
La Spada A R, Roling D B, Harding A E, Warner C L, Spiegel R, Hausmanowa-Petrusewicz I, Yee W C, Fischbeck K H
Abstract excerpt
Expansion of the trinucleotide repeat (CAG)n in the first exon of the androgen receptor gene is associated with a rare motor neuron disorder, X-linked spinal and bulbar muscular atrophy. We have found that expanded (CAG)n alleles undergo alteration in length when transmitted from parent to offspring. Of 45 meioses examined, 12 (27%) demonstrated a change in CAG repeat number. Both expansions and contractions were...
Topics
- Base Sequence
- DNA
- Female
- Genetic Linkage
- Genotype
- Humans
- Male
- Meiosis
- Muscular Atrophy, Spinal
- Pedigree
- Phenotype
- Receptors, Androgen