[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. RESULTS: 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. CONCLUSION: 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.

[Variations of the zinc finger protein 161 gene in Chinese with or without high myopia].

To investigate the association between variations of ZFP161 gene and high myopia, A total of 204 probands with simple high myopia(< or = -6.0 dipoters) were collected while 116 normal persons from different families without high myopia or related disease were used as controls. Genomic DNA was prepared from the peripheral leucocytes. The coding sequences of ZFP161 gene in 320 subjects were analyzed by using exon-by-exon PCR-heteroduplex-SSCP analysis. Identification of the Variations by cloning and sequencing, combinated with controls and family analysis, was used to disclose the correlation between ZFP161 gene and high myopia. A mutation of ZFP161 gene was identified as an insertion of AT before the 58th nucleotide of intron 1 (IVS1 58-59)(1/204) and a variation of ZFP161 gene was identified as a heterozygous C to A of the 168th nucleotide in exon 2 (Codon56, GCC-->GCA, Ala56Ala). Ala56Ala is a non-sense mutation identified in 5 of the 204 patients and 3 of 116 controls. No evidence shows that these variations are responsible for high myopia.

[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. RESULTS: 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. CONCLUSION: 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.

[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. A T/C polymorphism was identified in exon 1 of the GUCA1B gene in 31 of the 120 probands. Heteroduplex-SSCP analysis of the GUCA1B and GNGT1 coding regions and RGS9 alternative splicing region showed no mutations in 120 patients with retinitis pigmentosa. We found no evidence that mutation in GUCA1B,GNGT1,or RGS9 gene is a cause of retinitis pigmentosa.

[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 (TTT(Phe21Phe,4/180), nt2138C-->G(IVS3,1/180), codon277 GCC-->ACC(Ala277Thr,8/180), codon237 CCA-->TCA (Arg237stop,1/180), codon292CCG-->CCA (Ala292Ala,1/180),codon361CUG-->CUC(Leu361Leu,12/180), codon369 AAA-->AAG(Lys369Lys,12/180),nt3331G-->C(IVS7,3/180)were detected in a number of probands as indicated in the blanket. Of the 8 variations one( codon 277,G-->A,Ala277Thr) is a missense mutation identified in 8 of the 180patients and one of 60 controls; The mutation of codon361 and codon 369 were synonymous one and linkage each other; Another one(codon237,CCA-->TCA,Arg237stop) is a heterozygous nonsense mutation identified in one patient with autosomal recessive inheritance mode population but not in the 60 normal controls. The others were synonymous mutations. Eight nucleotide variations were found in the PRPH gene. We found no evidence that mutations in the PRPH gene are responsible for the high myopia in Chinese.