CETN1基因的突变位点与高度近视的关系

Relationship between Mutation in CETN1 Gene and High Myopia

目的分析位于18p11.31的CETN1基因的碱基突变,探讨此基因是否为高度近视的致病基因及其单核苷酸多态(SNPs)与高度近视的关系。方法收集157例高度近视患者的基因组DNA,其中常染色体显性遗传(AD组)59例,常染色体隐性遗传(AR组)46例,散发患者(SF组)52例;以71例视力常人为对照组。采用PCR扩增、SacⅠ酶切、异源双链-单链构象多态性及测序等方法分析CETN1基因的编码外显子。结果在CETN1基因的编码区发现1个杂合型SNP:120C→T,F40F;Genbank未见报道。AD组、AR组及SF组的基因型组成频率及等位基因频率分别与对照组比较,均无统计学差异(P均>0.05)。结论CETN1基因可能不是高度近视的致病基因,SNP120C→T与高度近视没有相关性。

Objective To investigate whether the mutations in the CETN1 gene which was mapped to 18p11. 31 result in high myopia, and the relationship between the single nucleotide polymorphisms （SNPs） and high myopia. Methods Genomic DNA was collected from 71 control subjects and 157 individuals with high myopia. Among them, there were 59 autosomal dominant high myopia probands（AD group）, 46 autosomal recessive probands （AR group） and 52 non- transmitted （SF group）. The exon of CETN1 gene was analyzed by polymerase chain reaction, Sac Ⅰ digestion, heteroduplex-single strand conformation polymorphism （HA-SSCP） and sequencing. Results There was 1 SNP of CETN1 gene in high myopia individuals and control subjects： 120C→T, F40F;Which hadn＇t been reported in Genbank. The genotypes and allele rates between controls and high myopia groups were not different. Conclusion CETN1 gene may not be the disease gene and SNP120C→T was not responsible for high myopia.