Verschuuren-Bemelmans C C, Brunt E R, Burton M, Mensink R G, van der Meulen M A, Smit N H, Stolte-Dijkstra I, Buys C H, Scheffer H
Department of Medical Genetics, University of Groningen, The Netherlands.
Hum Genet. 1995 Dec;96(6):691-4. doi: 10.1007/BF00210301.
The autosomal dominant cerebellar ataxias (ADCA) are clinically and genetically heterogeneous. To date, several loci (SCAI-V) have been identified for ADCA type I. We have studied two large families from the northern part of The Netherlands with ADCA type I with a broad intra-familial variation of symptoms. In both families significant linkage is shown of the disease to the markers of the SCA3 locus on chromosome 14. Through recombinations, the candidate region for SCA3 could be refined to a 13-cM range between D14S256 and D14S81. No recombinations were detected with the markers D14S291 and D14S280, which suggests that the SCA3 gene lies close to these loci. This finding will benefit the individuals at risk in these two families who are seeking predictive testing or prenatal diagnosis.
常染色体显性遗传性小脑共济失调（ADCA）在临床和遗传方面具有异质性。迄今为止，已确定了几个与I型ADCA相关的基因座（SCAI-V）。我们研究了来自荷兰北部的两个患有I型ADCA的大家族，其家族内部症状存在广泛差异。在这两个家族中，均显示该疾病与14号染色体上SCA3基因座的标记物存在显著连锁。通过重组，SCA3的候选区域可缩小至D14S256和D14S81之间13厘摩的范围。未检测到与标记物D14S291和D14S280的重组，这表明SCA3基因靠近这些基因座。这一发现将惠及这两个家族中寻求预测性检测或产前诊断的高危个体。
