Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy
Nature GeneticsPublished 1 December 1992
Albert R. La Spada, Daniel B. Roling, Anita E. Harding, Carolyn L. Warner, Roland Spiegel, I Hausmanowa-Pétrusewicz
Citations377
SJR quartileQ1
SJR score16.59
SNIP6.64
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TL;DR
It is found that expanded (CAG)n alleles undergo alteration in length when transmitted from parent to offspring, and there was a greater rate of instability in male meiosis than in female meiosis.
Abstract
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 observed, although their magnitude was small. There was a greater rate of instability in male meiosis than in female meiosis. We also found evidence for a correlation between disease severity and CAG repeat length, but other factors seem to contribute to the phenotypic variability in this disorder.
Keywords
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