Morton N E, Lalouel J M, Jackson J F, Currier R D, Yee S
Am J Med Genet. 1980;6(3):251-7. doi: 10.1002/ajmg.1320060309.
Data are now available on 9 pedigrees in detail and 4 pedigrees as lod scores only. Linkage to HLA is significant (Z = 5.53 at recombination rates of 0.223 in males and 0.327 in females). Tight linkage is excluded. Nine pedigrees which appear to be typical olivopontocerebellar atrophy (OPCA I) have recombination rates of 0.150 in males and 0.300 in females. The remaining 4 pedigrees are clinically atypical or include discrepant data and give no evidence for linkage. The symbol SCA1 is proposed for a locus on chromosome 6 (loosely linked to HLA), at which at least one allele produces OPCA I (Menzel type). It is not yet clear whether other clinical types are determined by alleles at different loci, although this is suggested by several pedigrees, including a Danish pedigree of OPCA with dementia. Linkage evidence will be decisive in delineating the ataxias.
目前已获得9个家系的详细数据，另有4个家系仅有连锁分析计分数据。与HLA的连锁显著（男性重组率为0.223时Z = 5.53，女性重组率为0.327时Z = 5.53）。排除紧密连锁。9个看似典型橄榄体脑桥小脑萎缩（OPCA I型）的家系，男性重组率为0.150，女性重组率为0.300。其余4个家系临床不典型或包含不一致的数据，未提供连锁证据。建议将SCA1作为6号染色体上的一个基因座（与HLA松散连锁）的符号，在该基因座上至少有一个等位基因可导致OPCA I型（门泽尔型）。目前尚不清楚其他临床类型是否由不同基因座的等位基因决定，尽管包括一个伴有痴呆的丹麦OPCA家系在内的几个家系提示了这种可能性。连锁证据对于明确共济失调的类型将具有决定性作用。
