Chen Rong, Gong Bo, Li Qian, Zeng Guangqun, Hao Fang, Li Ning, Shi Yi, Zhang Dingding
Zunyi Medical University, Zunyi, Guizhou 563000, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Apr;31(2):129-33. doi: 10.3760/cma.j.issn.1003-9406.2014.02.001.
To analyze the mutation of COL9A2 gene and investigate the molecular pathogenesis of pathological myopia in a Han Chinese population.
Mutation in the coding region of the COL9A2 gene was screened by Sanger sequencing in 200 subjects with pathological myopia and 200 normal controls. The detected variants were genotyped by SNaPshot method in another 200 myopic cases and 200 normal controls.
Sanger sequencing has failed to detect the reported D281fs frameshift mutation in the 200 cases. A novel variant, c.143G>C heterozygous missense mutation in exon 2, was identified in a myopic subject, and another novel variant, c.884G>A heterozygous missense mutation in exon 17, was found in another case. Neither was found in normal controls. One SNP (rs2228564) was detected in the coding region of the COL9A2 gene, but there was no significant difference in its allelic frequencies between the two groups (P> 0.05). Genotyping of the remainder 200 cases and 200 controls by SNaPshot method has found a c.143G>C in 1 case and c.884G>A in 2 cases, though no significant difference between the two groups was detected (P> 0.05).
The D281fs frameshift mutation in the COL9A2 gene is not associated with pathological myopia in the studied Han Chinese population. Two novel mutations, c.143G>C in exon 2 and c.884G>A in exon 17 of the COL9A2 gene, may contribute to the development of pathological myopia.
分析COL9A2基因的突变情况，并探讨汉族人群病理性近视的分子发病机制。
采用Sanger测序法对200例病理性近视患者和200例正常对照者的COL9A2基因编码区进行突变筛查。对另外200例近视患者和200例正常对照者采用SNaPshot方法对检测到的变异进行基因分型。
在200例病例中，Sanger测序未检测到报道的D281fs移码突变。在1例近视患者中鉴定出一个新的变异，即外显子2中的c.143G>C杂合错义突变，在另1例中发现另一个新的变异，即外显子17中的c.884G>A杂合错义突变。在正常对照中均未发现。在COL9A2基因编码区检测到一个单核苷酸多态性（rs2228564），但两组间其等位基因频率无显著差异（P>0.05）。采用SNaPshot方法对其余200例病例和200例对照进行基因分型，发现1例中有c.143G>C，2例中有c.884G>A，尽管两组间未检测到显著差异（P>0.05）。
在本研究的汉族人群中，COL9A2基因的D281fs移码突变与病理性近视无关。COL9A2基因外显子2中的c.143G>C和外显子17中的c.884G>A这两个新突变可能与病理性近视的发生有关。
