ISOLATION OF A PARTIAL CANDIDATE GENE FOR MENKES DISEASE BY POSITIONAL CLONING

被引：611

作者：

MERCER, JFB

LIVINGSTON, J

HALL, B

PAYNTER, JA

BEGY, C

CHANDRASEKHARAPPA, S

LOCKHART, P

GRIMES, A

BHAVE, M

SIEMIENIAK, D

GLOVER, TW

机构：

[1] UNIV MICHIGAN,HOWARD HUGHES MED INST,DEPT PEDIAT,ANN ARBOR,MI 48109

[2] UNIV MICHIGAN,HOWARD HUGHES MED INST,DEPT HUMAN GENET,ANN ARBOR,MI 48109

[3] UNIV MICHIGAN,CTR GENOME,ANN ARBOR,MI 48109

[4] MURDOCH UNIV,SCOBIE & CLAIRE MACKINNON TRACE ELEMENT LAB,MURDOCH,WA 6150,AUSTRALIA

来源：

NATURE GENETICS | 1993年 / 3卷 / 01期

关键词：

D O I：

10.1038/ng0193-20

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Menkes disease is an X-linked recessive disorder of copper metabolism resulting in death in early infancy. The gene has been mapped to band Xq13 based, in part, on a translocation breakpoint in a female with the disease, which was found to lie within 300 kilobases (kb) of the PGK-1 locus, allowing the isolation of a YAC clone spanning the breakpoint. Phage subclones from the breakpoint region were isolated and used to screen cDNA libraries. cDNA clones were found which detect an 8 kb transcript from normal individuals but show diminished or absent hybridization in Menkes disease patients. Partial sequence of the cDNA shows a unique open reading frame containing putative metal binding motifs which have been found in heavy metal resistance genes in bacteria. This gene is a strong candidate for the Menkes disease gene.

引用

页码：20 / 25

页数：6