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。

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 χ 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.