Polymeropoulos M H, Swift R G, Swift M
Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892.
Nat Genet. 1994 Sep;8(1):95-7. doi: 10.1038/ng0994-95.
Wolfram syndrome is an autosomal recessive disorder defined by the occurrence of diabetes mellitus and progressive bilateral optic atrophy. Wolfram syndrome homozygotes develop widespread nervous system abnormalities; in particular, they exhibit severe behavioural difficulties that often lead to suicide attempts or psychiatric hospitalizations. The Wolfram syndrome gene also predisposes heterozygous carriers to psychiatric disorders, and may contribute significantly to the overall burden of psychiatric illness. Based on a linkage analysis of 11 families segregating for this syndrome using microsatellite repeat polymorphisms throughout the human genome, we found the Wolfram syndrome gene to be linked to markers on the short arm of human chromosome 4, with Zmax = 6.46 at theta = 0.02 for marker D4S431.
沃夫勒姆综合征是一种常染色体隐性疾病，其特征为糖尿病和进行性双侧视神经萎缩。沃夫勒姆综合征纯合子会出现广泛的神经系统异常；特别是，他们表现出严重的行为困难，常常导致自杀企图或住院接受精神治疗。沃夫勒姆综合征基因也使杂合子携带者易患精神疾病，并可能对精神疾病的总体负担有显著影响。基于对11个患有该综合征的家系进行全基因组微卫星重复多态性连锁分析，我们发现沃夫勒姆综合征基因与人类4号染色体短臂上的标记物连锁，标记物D4S431在θ = 0.02时Zmax = 6.46。
