[Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia].
OBJECTIVE
To analyze the mutation of COL9A2 gene and investigate the molecular pathogenesis of pathological myopia in a Han Chinese population.


METHODS
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.


RESULTS
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).


CONCLUSIONS
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.
Zunyi Medical University, Zunyi, Guizhou 563000, P. R. China. zdd25@sina.com.
Rong
R
Chen
Bo
B
Gong
Qian
Q
Li
Guangqun
G
Zeng
Fang
F
Hao
Ning
N
Li
Yi
Y
Shi
Dingding
D
Zhang
D044466:Asian People / Q000235:genetics*; D002681:China / Q000208:ethnology; D024081:Collagen Type IX / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D047728:Myopia, Degenerative / Q000235:genetics*; D017422:Sequence Analysis, DNA
C120282:COL9A2 protein, human; D024081:Collagen Type IX