病理性近视与LAMA1基因相关性的研究  

Relationship between pathological myopia and the LAMA1 gene

作　　者：游江[1] 

机构地区：[1]中南大学湘雅二医院眼科中南大学湘雅二医院眼病研究所,中国湖南省长沙市410011

出　　处：《国际眼科杂志》2013年第7期1320-1321,共2页International Eye Science

基　　金：湖南省科学技术厅科技计划项目(No.2011FJ6001)~~

摘　　要：目的:探讨病理性近视与LAMA1基因之间的相关性。方法:收集汉族病理性近视患者及正常人外周静脉血,提取全基因组DNA,采用聚合酶链反应-单链构象多态性方法,对标本中LAMA1基因第27外显子、第36外显子的基因序列进行扩增及直接测序分析,应用SHEsis软件检验两组样本是否符合哈迪-温伯格平衡(Hardy Weinberg Equilibrium,HWE),通过Fisher确切概率检验病理性近视与LAMA1基因的相关性。结果:本研究中LAMA1基因第27外显子、第36外显子未发现有意义的突变。结论:LAMAl是否可被确认为病理性近视的致病基因尚需更深入的探究。AIM： To investigate the relationship between pathological myopia and the LAMA1 gene, METHODS： Individuals with pathological myopia and control subjects of Chinese Southern Han were selected. Genomic DNA was collected from 5mL peripheral blood, then the exon27, exon36 in the LAMA1 gene were analyzed by polymerase chain reaction （ PCR） and direct sequencing. Allele frequencies were tested for Hardy- Weinberg equilibrium （ HWE）. The 2 Fisher test was conducted to investigate the genotypic and allelic distri- bution between the pathological myopia and control groups. RESULTS： In this study, no gene mutation was identified in the exon27, exon36 in the LAMA1 gene. CONCLUSION： The relationship between pathological myopia and the LAMA1 gene is still waiting for the further proof.

关 键 词：病理性近视 LAMA1基因 

分 类 号：R778.11[医药卫生—眼科]