Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter.
Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter.
复制标题
精细定位将多发性先天性神经病型关节弯曲的基因置于染色体 5qter 上的 D5S394 和 D5S2069 之间。
DOI：
10.1002/ajmg.10030
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
M. Shohat
中科院分区：
文献类型：
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作者：
M. G. Tanamy;N. Magal;G. J. Halpern;Lutfi Jaber;M. Shohat
先天性多发性关节挛缩 (AMC) 是一种异质性复合症状，其特征是从出生起即涉及身体多个部位的非进行性关节挛缩。 1997年，我们小组调查了一个大型以色列阿拉伯近交系，该近交系表现出AMC神经病型常染色体隐性遗传，我们将该基因定位到标记D5S1456和D5S498之间的5qter。单倍型共享研究揭示了所有受影响个体与标记 D5S394 的完全纯合性，从而提供了有利于连锁的重要统计证据。在这项研究中，我们对染色体 5qter 的这个区域进行了进一步的精细定位，并检查了几个额外的标记。所有受影响的个体都显示出标记 D5S394 的完全纯合性，以及三个附加标记的完全纯合性，这三个标记是标记 D5S394 的端粒，并且分别位于距其 31766 bp、58016 bp 和 58516 bp 处。对重组个体的分析使我们能够将标记 D5S394 和 D5S2069 之间的关键区域缩小到 442 Mb 的距离。
Arthrogryposis multiplex congenita (AMC) is a heterogeneous symptom complex characterized by non-progressive joint contractures from birth that involve more than one part of the body. In 1997, our group investigated a large Israeli Arab inbred kindred that showed autosomal recessive inheritance of AMC neuropathic type, and we mapped the gene to 5qter between markers D5S1456 and D5S498. Haplotype sharing studies revealed complete homozygosity in all affected individuals with marker D5S394, thus providing significant statistical evidence in favor of linkage. In this study, we have undertaken further fine mapping of this region of chromosome 5qter, and have examined several additional markers. All the affected individuals showed complete homozygosity for the marker D5S394, and also for three additional markers that are telomeric to marker D5S394 and situated 31766 bp, 58016 bp, and 58516 bp, respectively, from it. Analysis of the recombinant individuals has enabled us to narrow down the critical region to a distance of.442 Mb between markers D5S394 and D5S2069.