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.
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.
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根据 24 个日本家系的连锁和连锁不平衡研究，将 Machado-Joseph 病基因定位在 D14S291/D14S280 和 D14S81 两侧的 3.6 cM 区间内。
DOI：
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发表时间：
1995
影响因子：
9.8
通讯作者：
J. Tada
中科院分区：
文献类型：
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作者：
H. Sasaki;A. Wakisaka;A. Takada;T. Yoshiki;T. Ihara;Y. Suzuki;T. Hamada;K. Iwabuchi;K. Onari;J. Tada
马查多-约瑟夫病(MJD)的基因座最近被定位在14Q染色体29 cM的亚区内。我们对24个多代MJD日本家系进行了连锁研究，试图缩小该基因的候选区域。结合单倍型分离分析，MJD基因位于D14S256和D14S81之间6.8 cM处(Zmax=24.78，多点连锁分析)。位于该区间中心的D14S291和D14S280与MJD基因无排他性重组(Zmax分别为5.93和9.99)。MJD基因与D14S81(P<；0.05)存在微弱但显著的连锁不平衡，但与D14S291或D14S280没有连锁不平衡。这些结果表明，D14S291/D14S280和D14S81两侧3.6 cM的距离是MJD基因最可能的位置，距离D14S81最近。
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.
常染色体显性 HLA 连锁脊髓小脑共济失调 (SCA1) 基因座的定位，位于两个家族中，位于 6p 染色体 8 cM 亚区域内。
影响因子：
9.8
作者：
Ranum,LP;Duvick,LA;Rich,SS;Schut,LJ;Litt,M;Orr,HT
通讯作者：
Orr,HT
常染色体显性脊髓小脑共济失调 (SCA1) 基因将端粒映射到 HLA 复合体，并与三个大家族中的 D6S89 基因座密切相关。
影响因子：
9.8
作者：
Zoghbi,HY;Jodice,C;Sandkuijl,LA;KwiatkowskiJr,TJ;McCall,AE;Huntoon,SA;Lulli,P;Spadaro,M;Litt,M;Cann,HM
通讯作者：
Cann,HM