Sampson J R, Janssen L A, Sandkuijl L A
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
J Med Genet. 1992 Dec;29(12):861-6. doi: 10.1136/jmg.29.12.861.
Previous linkage studies in tuberous sclerosis have implicated three disease determining loci at 9q, 11q, and 12q. We have collated phenotypic and genotypic data on 1622 members of 128 families with tuberous sclerosis in order to evaluate simultaneously the evidence for these putative loci. Affection status in the family members has been reassessed using uniform diagnostic criteria and genotypic data extensively checked before analysis under alternative models of locus heterogeneity. One tuberous sclerosis determining locus, accounting for approximately 50% of the families studied, has been found to map in the region of D9S10 on 9q34 but no evidence has been found to support the existence of major loci on 11q or 12q. A locus, or loci, elsewhere in the genome is likely to account for tuberous sclerosis in most non-chromosome 9 linked families.
先前关于结节性硬化症的连锁研究表明，9号染色体长臂、11号染色体长臂和12号染色体长臂上存在三个疾病决定基因座。我们整理了128个结节性硬化症家族中1622名成员的表型和基因型数据，以便同时评估这些假定基因座的证据。在采用统一诊断标准重新评估家庭成员的患病状况，并在基因座异质性的替代模型下进行分析之前，对基因型数据进行了广泛核对。已发现一个决定结节性硬化症的基因座，约占所研究家族的50%，定位于9号染色体长臂34区的D9S10区域，但未发现证据支持11号染色体长臂或12号染色体长臂上存在主要基因座。基因组中其他位置的一个或多个基因座可能是大多数与9号染色体无关的家族中结节性硬化症的病因。
