Saleem Q, Vijayakumar M, Mutsuddi M, Chowdhary N, Jain S, Brahmachari S K
Molecular Biophysics Unit, Indian Institute of Science, Bangalore.
Am J Med Genet. 1998 Sep 7;81(5):440-2.
Expansion of triplet repeats has been seen to underlie several disorders that manifest anticipation. Clinical evidence suggests that anticipation occurs in the major psychoses. We studied the distribution of repeat sizes at the Machado-Joseph disease (MJD) locus in a group of patients with the major psychoses. We did not find any large expansions, though 2 patients had alleles that were two repeats larger than in our controls. The difference in allele sizes was larger in the patient sample as compared to the controls. The effect of such large differences might be of functional significance.
三核苷酸重复序列的扩增已被视为几种表现出遗传早现的疾病的基础。临床证据表明，遗传早现在主要精神病中会出现。我们研究了一组主要精神病患者中马查多-约瑟夫病（MJD）基因座处重复序列大小的分布情况。我们没有发现任何大的扩增，不过有2名患者的等位基因比我们的对照组多两个重复序列。与对照组相比，患者样本中等位基因大小的差异更大。如此大的差异可能具有功能上的意义。
