Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese.
作者： Yanli Ji , Shiqiang Li , Xiaoyun Jia , Xiangming Guo , Xueshan Xiao
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摘要: PURPOSE To test the association of X-chromosome regions (Xp21.1-q21.2 and Xq25-27.2) with Leber hereditary optic neuropathy (LHON) in Chinese patients. METHODS One hundred seventy-five male LHON patients G11778A mutation 100 unrelated normal males participated. Twelve microsatellite markers four single-nucleotide polymorphisms (SNPs) were genotyped for controls. A chi(2) or Fisher's exact was used to compare frequencies genotypes as well haplotypes two groups. RESULTS Significant differences between controls found isolated (DXS6803: chi(2)=37.17, p=2.45 x 10(-5); DXS984: chi(2)=33.88, p=1.66 10(-6)) based on genotype frequencies. However, no significant haplotype other 14 located reported Xp21.1-q21.2 Xq25-27.2. CONCLUSIONS Our results provide suggestive evidence X-linked modifiers expression LHON. Further studies are needed identify nuclear genes that might affect expression.
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