ISOLATION AND CHARACTERIZATION OF A CANDIDATE GENE FOR NORRIE DISEASE

被引：172

作者：

CHEN, ZY

HENDRIKS, RW

JOBLING, MA

POWELL, JF

BREAKEFIELD, XO

SIMS, KB

CRAIG, IW

机构：

[1] UNIV OXFORD,DEPT BIOCHEM,GENET LAB,S PARKS RD,OXFORD OX1 3QU,ENGLAND

[2] INST PSYCHIAT,DEPT NEUROSCI,LONDON SE5 8AF,ENGLAND

[3] MASSACHUSETTS GEN HOSP,CTR NEUROSCI,MOLEC NEUROGENET LAB,BOSTON,MA 02114

来源：

NATURE GENETICS | 1992年 / 1卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng0692-204

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Previous analysis has refined the location of the gene for Norrie disease, a severe, X-linked, recessive neurodevelopmental disorder, to a yeast artificial chromosome subfragment of 160 kilobases (kb). This fragment was used to screen cDNA libraries from human fetal and adult retina. As a result, we have identified an evolutionarily conserved cDNA, which is expressed in fetal and adult brain and encodes a predicted protein of 133 amino acids. The cDNA detects genomic sequences which span a maximum of 50 kb, and which are partly deleted in several typical Norrie disease patients. An EcoRI polymorphism with a calculated heterozygosity value of 43% was observed. The locus identified is a strong candidate for the Norrie disease gene.

引用

页码：204 / 208

页数：5

共 34 条

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