ISOLATION AND CHARACTERIZATION OF A CANDIDATE GENE FOR NORRIE DISEASE

被引：173
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
收藏
页码：204 / 208
页数：5
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