Mj. Abramowicz et al., SLIGHT INSTABILITY OF A FMR-1 ALLELE OVER 3 GENERATIONS IN A FAMILY FROM THE GENERAL-POPULATION, American journal of medical genetics, 64(2), 1996, pp. 268-269
We report on a family segregating a FMR-1 allele within the ''grey zon
e'' of triplet repeat length (n = 51). The allele showed a 1-unit incr
ement when transmitted through a female meiosis and a 1-unit increment
when transmitted through a male of the next generation. At the follow
ing generation, a pregnant woman had amniocentesis performed. The latt
er showed she transmitted the allele unchanged (n = 53) to her male fe
tus. This family was not ascertained through an affected subject, and
there was no family history of mental retardation. Thus our observatio
n reflects the natural history of an unstable allele in the general po
pulation. Systematic analysis of such alleles may help refine our unde
rstanding of the grey zone of triple repeat length. (C) 1996 Wiley-Lis
s, Inc.