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导致LEC肝炎的基因位于大鼠16号染色体上,是人类威尔逊病基因的同源物。

The gene responsible for LEC hepatitis, located on rat chromosome 16, is the homolog to the human Wilson disease gene.

作者信息

Sasaki N, Hayashizaki Y, Muramatsu M, Matsuda Y, Ando Y, Kuramoto T, Serikawa T, Azuma T, Naito A, Agui T

机构信息

RIKEN Tsukuba Life Science Center, Institute of Physical and Chemical Research, Ibaraki, Japan.

出版信息

Biochem Biophys Res Commun. 1994 Jul 15;202(1):512-8. doi: 10.1006/bbrc.1994.1958.

Abstract

We identified the rat homolog to the human Wilson disease (WD) gene as the gene responsible for hepatitis (hts) in the Long Evans Cinnamon (LEC) rat. A genetic study using fifty-three backcross progenies showed that the rat WD gene detected by Southern blotting using the human WD gene as a probe was tightly linked to the hts phenotype of the LEC rat with no recombination. LEC is a transcriptionally deficient mutant because no transcript of the rat WD gene could be found in the LEC rat by Northern blotting. This rat WD gene was mapped to 16q12.23-12.3 by fluorescence in situ hybridization and mouse x rat somatic cell hybrid analysis.

摘要

我们鉴定出大鼠中与人类威尔逊病(WD)基因同源的基因是长 Evans 肉桂色(LEC)大鼠肝炎(hts)的致病基因。一项对 53 个回交后代的遗传学研究表明,用人 WD 基因作为探针通过 Southern 印迹检测到的大鼠 WD 基因与 LEC 大鼠的 hts 表型紧密连锁,无重组现象。LEC 是一种转录缺陷型突变体,因为通过 Northern 印迹在 LEC 大鼠中未发现大鼠 WD 基因的转录本。通过荧光原位杂交和小鼠×大鼠体细胞杂交分析,该大鼠 WD 基因被定位到 16q12.23 - 12.3。

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