Human Molecular Genetics, Vol 8, 453-457, Copyright © 1999 by Oxford University Press
Y Takiyama, K Sakoe, M Amaike, M Soutome, T Ogawa, I Nakano and M Nishizawa
Dentatorubral-pallidoluysian atrophy (DRPLA) is known to show the most
prominent genetic anticipation among CAG repeat diseases. To investigate
the mechanism underlying the meiotic instability of expanded CAG repeats in
the gene for DRPLA, we determined the CAG repeat sizes of 427 single sperm
from two individuals with DRPLA. The mean variance of the change in the CAG
repeat size in sperm from the DRPLA patients (288.0) was larger than any
variances of the CAG repeat size in sperm from patients with Machado-Joseph
disease (38. 5), Huntington's disease (69.0) and spinal and bulbar muscular
atrophy (16.3), which is consistent with the clinical observation that the
genetic anticipation on the paternal transmission of DRPLA is the most
prominent among CAG repeat diseases. The variance of the change in CAG
repeat size was significantly different between the two DRPLA patients
(F-test, P < 0.0001). However, the segregation ratio of single sperm
with an expanded allele to ones with a normal allele is not statistically
different ( P = 0.161) from the expected 1:1 segregation ratio, and thus
segregation distortion of expanded alleles in meiosis in male patients with
DRPLA was not demonstrated.
ARTICLES
Single sperm analysis of the CAG repeats in the gene for dentatorubral- pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases
Department of Neurology, Jichi Medical School, 3311-1 Minamikawachi, Kawachi, Tochigi 329-0498, Japan.
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