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ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy

先天性上斜肌麻痹患者ARIX基因多态性分析

基本信息

批准号：
15591858
负责人：
MATSUO Toshihiko
金额：
$ 1.22万
依托单位：
Okayama University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2003
资助国家：
日本
起止时间：
2003 至 2005
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-15591858/
关键词：
superior oblique muscle palsy polymorphism ARIX PHOX2B strabismus congenital epidemiology prevalence 遺伝子 Arix

项目摘要

To identify ARIX gene and PHOX2B gene polymorphisms in patients with congenital superior oblique muscle palsy, 3 exons of the ARIX gene and PHOX2B gene were sequenced by genomic DNA amplification with polymerase chain reaction (PCR) and direct sequencing in 31 patients with congenital superior oblique muscle palsy and in 54 normal individuals. A family with a father and one daughter each having congenital superior oblique muscle palsy was also included in this study. Eleven patients with congenital superior oblique muscle palsy had heterozygous nucleotide changes in the ARIX gene, including 4 patients reported on previously. One patient with atrophy of the superior oblique muscle had a new change of T-4G in the promoter region of the ARIX gene. The other 6 patients had a heterozygous nucleotide change of G153A in the 5'-untranslated region (UTR) of the exon 1 of the ARIX gene. These nucleotide changes of the ARIX gene, taken together, had a significant association with congenital superior oblique muscle palsy (P=0.0022). One patient and 5 patients had heterozygous nucleotide changes of A1106C and A1121C in exon 3 of the PHOX2B gene, respectively, while these changes were absent in the normal individuals. Two patients had both the G153A change in the 5'-UTR of exon 1 of the ARIX gene and the A1121C change in exon 3 of the PHOX2B gene. In conclusion, the polymorphisms of the ARIX gene and PHOX2B gene may be genetic risk factors for the development of congenital superior oblique muscle palsy.

为探讨先天性上级斜肌麻痹患者ARIX基因和PHOX 2B基因的多态性，应用聚合酶链反应（PCR）扩增和直接测序技术对31例先天性上级斜肌麻痹患者和54例正常人的ARIX基因和PHOX 2B基因的3个外显子进行了测序。本研究还纳入了一个父亲和一个女儿均患有先天性上级斜肌麻痹的家庭。11例先天性上级斜肌麻痹患者ARIX基因发生杂合性核苷酸改变，其中4例为既往报道。1例上级斜肌萎缩患者ARIX基因启动子区出现T-4G新变化。另外6例患者ARIX基因外显子1的5 '非翻译区（UTR）存在G153 A杂合性核苷酸改变。ARIX基因的这些核苷酸变化，加在一起，与先天性上级斜肌麻痹有显着的关联（P=0.0022）。1例患者和5例患者分别在PHOX 2B基因外显子3中存在A1106 C和A1121 C杂合核苷酸改变，而这些改变在正常个体中不存在。2例患者ARIX基因外显子1的5 '-UTR处发生G153 A改变，PHOX 2B基因外显子3处发生A1121 C改变。结论ARIX基因和PHOX 2B基因多态性可能是先天性上级斜肌麻痹发生的遗传危险因素。