Koeppen A H, Goedde H W, Hiller C, Hirth L, Benkmann H G
Arch Neurol. 1981 Mar;38(3):158-64. doi: 10.1001/archneur.1981.00510030052007.
Possible linkage of the gene or genes for dominant hereditary ataxia and three genetic markers on the short arm of the sixth chromosome (HLA, properdin factor B [Bf], and glyoxalase I) was investigated in five families. Logarithmic odds (lod scores) were calculated for the linkages and found to be either inconclusive or in favor of nonlinkage. Caution is advised in the summing of lod scores for separate families because of the wide spectrum of clinical and anatomical manifestations of dominant hereditary ataxia. Three families with recessive hereditary ataxia were also studied. Identical haplotypes occurred in affected and unaffected siblings. It did not appear likely that the recessive genes of the parents were transmitted in linkage with the markers on the short arm of the sixth chromosome.
在五个家庭中研究了显性遗传性共济失调相关基因与第六号染色体短臂上的三个遗传标记(人类白细胞抗原、备解素因子B [Bf] 和乙二醛酶I)之间可能的连锁关系。计算了连锁的对数优势(lod分数),发现结果要么不明确,要么支持非连锁。由于显性遗传性共济失调的临床和解剖学表现范围广泛,因此在汇总各个家庭的lod分数时应谨慎。还研究了三个隐性遗传性共济失调家庭。在患病和未患病的兄弟姐妹中出现了相同的单倍型。父母的隐性基因似乎不太可能与第六号染色体短臂上的标记连锁传递。