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Mapping of the human nicotinic acetylcholine receptor beta 3 gene (CHRNB3) within chromosome 8p11.2.人类烟碱型乙酰胆碱受体β3基因（CHRNB3）在染色体8p11.2区域的定位。
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Avoiding recomputation in linkage analysis.避免连锁分析中的重复计算。
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10
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8.一种与智力迟钝相关的隐性遗传人类儿童进行性癫痫的基因定位于8号染色体短臂远端。
Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):7267-70. doi: 10.1073/pnas.91.15.7267.

8号染色体短臂上进行性癫痫伴智力障碍（EPMR）基因座的遗传和物理图谱分析。

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

作者信息

Ranta S, Lehesjoki A E, Hirvasniemi A, Weissenbach J, Ross B, Leal S M, de la Chapelle A, Gilliam T C

机构信息

Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.

出版信息

Genome Res. 1996 May;6(5):351-60. doi: 10.1101/gr.6.5.351.

DOI:10.1101/gr.6.5.351
PMID:8743986
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6145179/
Abstract

Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland. The disorder is characterized by normal early development, generalized tonic-clonic seizures with onset at 5-10 years of age, and progressive mental retardation beginning 2-5 years after the onset of seizures. We recently mapped the EPMR locus to a 7-cM region on chromosome 8p between markers AFM185xb2 and D8S262. A recombination detected with a new microsatellite marker AFMa054td9 narrows the region to 4 cM. A yeast artificial chromosome (YAC) contig containing 22 YACs was constructed across the disease gene region. The YAC contig is characterized by a collection of 19 YAC-end sequence-tag sites together with seven microsatellite markers. The entire YAC contig spans a minimum of 3 Mb. Moreover, the distal end of the contig contains a subtelomeric YAC yRM2205 that anchors the contig to the telomere. Construction of a YAC contig across the disease gene region is an essential step toward the isolation of the EPMR gene.

摘要

进行性癫痫伴智力迟钝（EPMR）是一种常染色体隐性疾病，最近在芬兰的一个隔离地区被发现。该疾病的特点是早期发育正常，5至10岁时出现全身性强直阵挛发作，癫痫发作开始2至5年后出现进行性智力迟钝。我们最近将EPMR基因座定位到8号染色体短臂上标记AFM185xb2和D8S262之间的一个7厘摩区域。利用一个新的微卫星标记AFMa054td9检测到的一次重组将该区域缩小到4厘摩。构建了一个包含22个酵母人工染色体（YAC）的重叠群，跨越疾病基因区域。该YAC重叠群的特征是由19个YAC末端序列标签位点以及7个微卫星标记组成。整个YAC重叠群至少跨越3兆碱基。此外，重叠群的远端包含一个亚端粒YAC yRM2205，它将重叠群锚定到端粒上。构建跨越疾病基因区域的YAC重叠群是分离EPMR基因的关键一步。