基于对24个日本家庭的连锁分析和连锁不平衡研究，将马查多-约瑟夫病基因定位在由D14S291/D14S280和D14S81界定的3.6厘摩区间内。
Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families.
作者信息
Sasaki H, Wakisaka A, Takada A, Yoshiki T, Ihara T, Suzuki Y, Hamada T, Iwabuchi K, Onari K, Tada J
机构信息
Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.
出版信息
Am J Hum Genet. 1995 Jan;56(1):231-42.
The gene locus of Machado-Joseph disease (MJD) has recently been mapped within a 29-cM subregion of 14q chromosome. We did a linkage study of 24 multigenerational MJD Japanese pedigrees, in an attempt to narrow the candidate region of this gene. Pairwise and multipoint linkage analysis, together with haplotype segregation analysis, led to the conclusion that the MJD gene is located at the 6.8-cM interval between D14S256 and D14S81 (Zmax = 24.78, multipoint linkage analysis). D14S291 and D14S280, located at the center of this interval, showed no obligate recombination with the MJD gene (Zmax = 5.93 for D14S291 and 9.99 for D14S280). A weak, but significant, linkage disequilibrium of MJD gene was noted with D14S81 (P < .05) but not with D14S291 or D14S280. These results suggest that a 3.6-cM interval flanked by D14S291/D14S280 and D14S81 is the most likely location of the MJD gene and that it is closest to D14S81.
马查多 - 约瑟夫病（MJD）的基因座最近已被定位在14号染色体的一个29厘摩的亚区域内。我们对24个日本MJD多代家系进行了连锁研究，试图缩小该基因的候选区域。两点和多点连锁分析以及单倍型分离分析得出结论，MJD基因位于D14S256和D14S81之间6.8厘摩的区间内（Z最大值 = 24.78，多点连锁分析）。位于该区间中心的D14S291和D14S280与MJD基因未出现必然重组（D14S291的Z最大值 = 5.93，D14S280的Z最大值 = 9.99）。注意到MJD基因与D14S81存在微弱但显著的连锁不平衡（P < .05），而与D14S291或D14S280不存在连锁不平衡。这些结果表明，由D14S291/D14S280和D14S81界定的3.6厘摩区间是MJD基因最可能的位置，且它最靠近D14S81。
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