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Human Molecular Genetics, 1999, Vol. 8, No. 9 1779-1784
© 1999 Oxford University Press

French Machado–Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis

Raji P. Grewal, Geraldine Cancel1, Esther P. Leeflang, Alexandra Dürr1, Mary Sara McPeek2, David Draghinas, Xiang Yao, Giovanni Stevanin1, Marie-Odile Alnot3, Alexis Brice and Norman Arnheim+

Program in Molecular Biology, SHS 172, 835 West 37th Street, University of Southern California, Los Angeles, CA 90089-1340, USA, 1INSERM U289 and Fédération de Neurologie, Hôpital de la Salpêtrière, Paris, France, 2Department of Statistics, University of Chicago, Chicago, IL 60637, USA and 3CECOS-Necker, Groupe Hospitalier Necker-Enfants Malades, Paris, France

Segregation distortion has been reported to occur in a number of the trinucleotide repeat disorders. On the basis of a sperm typing study performed in patients of Japanese descent with Machado–Joseph disease (MJD), it was reported that disease alleles are preferentially transmitted during meiosis. We performed a sperm typing study of five MJD patients of French descent and analysis of the pooled data shows a ratio of mutant to normal alleles of 379:436 (46.5:53.5%), which does not support meiotic segregation distortion. To confirm these results, sperm typing analysis was also performed using a polymorphic marker, D14S1050, closely linked to the MJD1 gene. Among 910 sperm analyzed, the allele linked to the disease chromosome was detected in 50.3% of the samples and the allele linked to the normal chromosome was found in 49.6% of the sperm. The difference in frequency of these two alleles is not significant (P = 0.8423). Likelihood-based analysis of segregation distortion in the single sperm data using the SPERMSEG program also showed no support for segregation distortion at the gamete level in this patient population. The previous report on the Japanese patients also suggested that disease allele stability may be influenced by a trans effect of an intragenic polymorphism (987 G/C) in the wild-type allele. All of the French patients were heterozygous for this polymorphism. However, analysis of the variance in repeat number in sperm from the French MJD patients overlapped significantly with the variance in repeat number observed in the C/C homozygous Japanese patients.

+ To whom correspondence should be addressed. Tel: +1 213 740 7675; Fax: +1 213 740 8631; Email: arnheim{at}molbio.usc.edu


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