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人类8.5H基因定位于5号染色体5q35区域。

Assignment of the human 8.5 H gene to chromosome 5, region 5q35.

作者信息

Diriong S, Sabéran-Djoneidi D, Lévi-Strauss M, Bernheim A, Nguyen V C

机构信息

Laboratoire de Cytogénétique et de Génétique Oncologiques, UA 1158 Oncologie Moléculaire CNRS, PR2, Institut Gustave-Roussy, Villejuif, France.

出版信息

Hum Genet. 1994 Jun;93(6):703-6. doi: 10.1007/BF00201576.

Abstract

The human 8.5 H probe was isolated from a human cerebellum cDNA library with a probe corresponding to the coding region of the murine 8.5 M cDNA. This cDNA isolated from a murine cDNA library constructed from newborn cerebral hemispheres was selected because of its strong expression in embryonic neurons. Consequently the corresponding human gene could be a candidate for hereditary neurodegenerative diseases. The human 8.5 H gene was assigned by somatic hybrid analysis to chromosome 5; this chromosome contains the gene(s) for spinal muscular atrophy (SMA), a group of heritable degenerative diseases that selectively affect the anterior horn motor neuron of the spinal cord. The localization by in situ hybridization of 8.5 H on 5q35 excluded the possibility that this gene is identical to SMA. The SMA gene(s) was (were) known, from linkage analysis, to be in a region (5q11.2-q13.3) very distant from 5q35.

摘要

人8.5H探针是从人小脑cDNA文库中分离得到的,所用探针对应于小鼠8.5M cDNA的编码区。从小鼠新生大脑半球构建的cDNA文库中分离出的该cDNA,因其在胚胎神经元中强烈表达而被选中。因此,相应的人类基因可能是遗传性神经退行性疾病的候选基因。通过体细胞杂交分析将人8.5H基因定位到5号染色体;该染色体包含脊髓性肌萎缩症(SMA)的基因,SMA是一组遗传性退行性疾病,选择性地影响脊髓前角运动神经元。通过原位杂交将8.5H定位到5q35排除了该基因与SMA相同的可能性。从连锁分析可知,SMA基因位于一个与5q35距离非常远的区域(5q11.2-q13.3)。

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