Hereditary cerebellar ataxia and genetic linkage with HLA
Hereditary cerebellar ataxia and genetic linkage with HLA
复制标题
遗传性小脑共济失调及其与 HLA 的遗传联系
作者：
Dhavendra Kumar;C. Blank;K. Gelsthorpe
摘要本文研究了5个至少三代成员患有常染色体显性脊髓小脑性共济失调（SCA）的家族。进行HLA分型，编码的HLA单倍型使用LIPED计算机程序计算连锁可能性。这五个家庭的综合得分本身并不支持这种联系。在所有五个家族中均观察到负的lod评分，然而，当与先前发表的数据合并时，获得显著的lod评分[Z=3.343 （Θ=0.20）和+4.286 （Θ=0.30）]。在4个家族中，受影响成员的临床特征与常染色体显性小脑共济失调（ADCA） I型一致，而在第5个家族中，被认为是ADCA II型。ADCA的临床异质性引起了对总lod评分的重要性的怀疑。鉴于以往的报道，可能存在两种遗传异质性类型的ADCA - HLA连锁和非连锁。
SummaryFive families with at least three generations of members affected with autosomal dominant spinocerebellar ataxia (SCA) were studied. HLA typing was carried out and the coded HLA haplotypes were used to calculate the likelihood of linkage using the LIPED computer program. The combined lod scores from these five families does not, by itself, support linkage. Negative lod scores were observed in all five families, however, when pooled with the previously published data significant lod scores were obtained [Z=3.343 (Θ=0.20) and +4.286 (Θ=0.30)]. In four families, affected members had clinical features consistent with autosomal dommant cerebellar ataxia (ADCA) type I while in the fifth, ADCA type II was suggested. Clinical heterogeneity within ADCA raises doubts about the significance of summed lod scores. In view of the previous reports probably two genetically heterogeneous types of ADCA exist — HLA linked and nonlinked.