Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the mutation of Leber's hereditary optic neuropathy (LHON) and the clinical features in Chinese patients.</p><p><b>METHODS</b>The primary mtDNA mutations (3460A, 11778A and 14484C) of 156 patients (110 probands and 46 maternal relatives with LHON) were detected by mutation-specific priming polymerase chain reaction, heteroduplex-single strand conformation polymorphism polymerase chain reaction, restriction fragment length polymorphisms and measurement of DNA sequence. The clinical features were analyzed by retrospective study.</p><p><b>RESULTS</b>The 11778A mutation was found in 100 probands (90.9%), the 3460A mutation was found in 2 (1.8%), and the 14484C was found in 8 (7.3%) of the 110 probands. The visual acuity at onset of the disease was 0.01 or worse in 44 (17.6%) of 250 eyes with the 11778A mutation, but in none of 79 eyes with the 14484C mutation. The visual acuity was 0.1 or better in 76 (29.6%) of 250 eyes with the 11778A mutation, but in 49 (87.3%) of 56 eyes with the 14484C mutation. And 6.8% of 250 eyes with the 11778A mutation recovered a mean final visual acuity of 0.03, whereas 50% of 56 eyes with the 14484C mutation recovered a mean final visual acuity of 0.8.</p><p><b>CONCLUSION</b>In Chinese LHON patients the 11778A, 14484C primary mutations are common. The clinical features are associated with the site of primary mutation. The visual acuity at onset of the disease and the visual recovery of the eyes with 14484C mutation were better than the eyes with the 11778A mutation.</p>

The SNPs analysis of encoding sequence of interacting factor gene in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen the variations of TG interacting factor(TGIF) gene in encoding sequence in Chinese high myopia patients and normal controls and to analyze the SNPs of TGIF gene encoding sequence in Chinese population.</p><p><b>METHODS</b>Genomic DNA was collected from 204 probands with high myopia and 112 unrelated persons without high myopia. The coding sequences of TGIF gene in 316 subjects were analyzed by using exon-by-exon PCR heteroduplex-SSCP analysis and sequencing.</p><p><b>RESULTS</b>There were 3 types of SNP and one single nucleotide mutation in the coding sequence of TGIF gene: IVS-2 nt350 G --> T(36/204), codon140 CCA --> CCG; Pro140Pro codon163 CCG --> CTG;Pro163Leu and codon126 GTG --> GCG; Val126Ala(1/204). The SNPs of codon140 CCA --> CCG and codon163 CCG --> CTG were composed of 3 alleles and 5 genotypes in Chinese population which abide by Hardy-Weinberg law.</p><p><b>CONCLUSION</b>There was no evidence to prove that mutations in the TGIF gene are responsible for the high myopia in Chinese. Three SNPs of coding sequence TGIF gene in Chinese population abide by Hardy-Weinberg law.</p>