[Variation of the peripherin gene in Chinese with or without high myopia].

To analyze the relationship of the peripherin gene(PRPH, OMIM17071) mutations with high myopia,genomic DNA was collected from 180 probands with high myopia ( View Article and Find Full Text PDF

[Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients].

Objective: To analyze the mutation of Leber's hereditary optic neuropathy (LHON) and the clinical features in Chinese patients.

Methods: 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.

[Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa].

To screen possible disease-causing mutations in the GUCA1B gene, GNGT1 gene,and the alternative-splicing region of RGS9 gene in 120 probands with retinitis pigmentosa,genomic DNA was collected from 120 probands with retinitis pigmentosa out of 120 families. The coding sequences of the GUCA1B and GNGT1 genes and the alternative splicing region of the RGS9 gene were analyzed by using PCR-heteroduplex-SSCP method. Mutation was confirmed by DNA sequencing.

[The SNPs analysis of encoding sequence of interacting factor gene in Chinese population].

Objective: 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.

Methods: 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.