Bengel D, Balling U, Stöber G, Heils A, Li S H, Ross C A, Jungkunz G, Franzek E, Beckmann H, Riederer P, Lesch K P
Department of Psychiatry, University of Würzburg, Germany.
Eur Arch Psychiatry Clin Neurosci. 1998;248(2):78-81. doi: 10.1007/s004060050021.
Clinical evidence for a dominant mode of inheritance and anticipation in periodic catatonia, a distinct subtype of schizophrenia, suggests that trinucleotide repeat expansions may be involved in the aetiology of this disorder. Since genes with triplet repeats are putative canditates for causing schizophrenia, we have analysed the polymorphic B33 CTG repeat locus on chromosome 3 in 45 patients with periodic catatonia and 43 control subjects. The B33 CTG repeat locus was highly polymorphic, but all alleles in both the patient and control groups had repeat lengths within the normal range. We conclude that susceptibility to periodic catatonia is not influenced by variation at the B33 CTG repeat locus. Nevertheless, that periodic catatonia displays dominant inheritance and anticipation, characteristic of genetic disorders involving trinucleotide repeats, justifies further screening for triplet repeat expansions in this illness.
周期性紧张症是精神分裂症的一种独特亚型，有关其显性遗传模式及遗传早现的临床证据表明，三核苷酸重复序列扩增可能参与了该疾病的病因。由于具有三联体重复序列的基因被认为是导致精神分裂症的候选基因，我们分析了45例周期性紧张症患者和43例对照者的3号染色体上的多态性B33 CTG重复位点。B33 CTG重复位点具有高度多态性，但患者组和对照组的所有等位基因的重复长度均在正常范围内。我们得出结论，周期性紧张症的易感性不受B33 CTG重复位点变异的影响。然而，周期性紧张症表现出显性遗传和遗传早现，这是涉及三核苷酸重复序列的遗传性疾病的特征，因此有理由对该疾病进一步筛查三联体重复序列扩增情况。
