INVOLVEMENT OF HUMAN MUSCLE ACETYLCHOLINE-RECEPTOR ALPHA-SUBUNIT GENE (CHRNA) IN SUSCEPTIBILITY TO MYASTHENIA-GRAVIS

被引：65

作者：

GARCHON, HJ ^{[1
]}

DJABIRI, F ^{[1
]}

VIARD, JP ^{[1
]}

GAJDOS, P ^{[1
]}

BACH, JF ^{[1
]}

机构：

[1] HOP RAY POINCARE, SERV REANIMAT MED, GARCHES, FRANCE

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1994年 / 91卷 / 11期

关键词：

REPETITIVE DNA; MICROSATELLITE REPEAT; DINUCLEOTIDE REPENT; POLYMORPHISM;

D O I：

10.1073/pnas.91.11.4668

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The muscle acetylcholine receptor is the major target of the autoimmune response in generalized myasthenia gravis. To investigate the role of the gene encoding the alpha subunit of the receptor (CHRNA), two stable polymorphic d[(GT).(CA)]dinucleotide repeats, designated HB and BB, were characterized within the first intron of CHRNA. The HB*14 allele conferred a relative risk for myasthenia gravis of 2.5 in 81 unrelated patients compared with 100 control subjects. Very significantly, family analysis based on haplotype segregation data indicated that parental haplotypes associated with HB*14 always segregated to the child with myasthenia gravis (P < 0.0002 for the comparison with the transmission of haplotypes not bearing HB*14), whereas their transmission to unaffected siblings was equilibrated. Myasthenia gravis patients also showed a high frequency of microsatellite variants unseen in controls. These findings implicate the CHRNA in susceptibility to myasthenia gravis.

引用

页码：4668 / 4672

页数：5

共 44 条

[1] THE HUMAN MUSCLE NICOTINIC ACETYLCHOLINE-RECEPTOR ALPHA-SUBUNIT EXISTS AS 2 ISOFORMS - A NOVEL EXON [J].