Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease.
Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease.
复制标题
日本马查多-约瑟夫病家系的强连锁不平衡和单倍型分析。
DOI：
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发表时间：
1996
期刊：
影响因子：
--
通讯作者：
S. Tsuji
中科院分区：
文献类型：
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作者：
K. Endo;H. Sasaki;A. Wakisaka;H. Tanaka;M. Saito;S. Igarashi;Y. Takiyama;K. Sanpei;K. Iwabuchi;Y. Suzuki;K. Onari;T. Suzuki;J. Weissenbach;J. Weber;Y. Nomura;M. Segawa;M. Nishizawa;S. Tsuji
为了确定与Machado-Joseph病（MJD）紧密相关的标记，并研究日本MJD家系是否有有限数量的祖先染色体共享，我们对D14S55、D14S48、D14S67、D14S291、D14S280、AFM343vf1、D14S81、D14S265、D14S62和D14S65进行了详细的连锁分析。多点连锁分析和关键重组事件检测结果表明，MJD基因定位在D14S280-D14S81之间的4cm区域。我们发现AFM343vf1和D14S81位点存在强烈的连锁不平衡，并且一些常见的单倍型与MJD存在关联。这些结果表明，日本MJD存在明显的奠基人效应，可能存在易于CAG重复扩增的易感单倍型。
To identify the markers tightly linked to Machado-Joseph disease (MJD) and to investigate whether a limited number of ancestral chromosomes are shared by Japanese MJD pedigrees, a detailed linkage analysis employing D14S55, D14S48, D14S67, D14S291, D14S280, AFM343vf1, D14S81, D14S265, D14S62, and D14S65 was performed. The results of multipoint linkage analysis as well as detection of critical recombination events indicate that the gene for MJD is localized in a 4-cM region between D14S280-D14S81. We found strong linkage disequilibria at AFM343vf1 and D14S81, and association of a few common haplotypes with MJD. These results indicate that there is an obvious founder effect in Japanese MJD and suggest the possibility of the existence of predisposing haplotypes which are prone to expansions of CAG repeats.
影响因子：
4.4
作者：
DEVLIN, B;RISCH, N
通讯作者：
RISCH, N