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Publications (3)0 Total impact

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    ABSTRACT: To describe the clinical phenotype in a Chinese family with congenital fibrosis of extraocular muscles and to identify the location of candidate gene of the disease in chromosome. The clinical feature of all affected members in this family were examined. A genome-wide linkage screening was conducted. Direct genomic sequencing was used to evaluate the candidate gene KIf21A. Four affected members in the pedigree were born with classic phenotype of CFEOM. By linkage analysis the disease gene was mapped to chromosomal region 12p11.2-q12 defined by microsatellite markers D12S1648 and D12S1668. The maximum Lod Score was 2.12 (D12S1090). Direct sequence showed no mutation in all exons and exon-intron boundaries of the candidate gene KIF21A, a polymorphism substitution occurred in the exon 21. The disorder in this family should be referred as CFEOM1 which was inherited as an autosomal dominant trait. The candidate gene was linked to CFEOM1 locus on chromosome 12p11.2-q12, between marker D12S1648 and D12S1668. It's more likely that KIf21A is not the disease causing gene in this family.
    [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 08/2005; 41(7):594-9.
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    ABSTRACT: To investigate the mutation spectrum of phosphodiesterase beta subunit (PDE6B) gene and incidence in Chinese retinitis pigmentosa (RP) patients. Genomic DNA was extracted from the blood samples of 38 patients from 35 autosomal recessive retinitis pigmentosa (ARRP) families and 55 sporadic cases. The mutation of the PDE6B gene was detected using PCR-SSCP, and the amplified PCR product of abnormal bands was sequenced. Within intron 10 of PDE6B gene, a mutation was found in an ARRP family, a G --> A transition at 19th base upstream 5'-end of exon 11. A novel complex heterozygous variant of PDE6B gene in a sporadic case, a T to C transition in codon 323 resulting in the substitution of Gly by Ser and two bp(TG) inserted between the 27th-28th bp upstream of the 5'-end of exon 10 were both present in the same isolate RP. But they were not found in 100 unrelated normal individuals. A sporadic RP was found carrying a sequence variant of PDE6B gene, a G to C transversion in intron 18, the 15th base adjacent to the 3'end of exon 18. Another isolate RP was found to have 2 bp inserted between 31st and 32nd base upstream 5'end of exon 4 (in intron 3) of PDE6B gene. There is a complex heterozygous mutation of PDE6B gene responsible for a sporadic RP patient in China. Several DNA variants were found in intron of PDE6B gene in the national population.
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 06/2003; 20(3):200-2.
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    ABSTRACT: To identify the mutation spectrum of phosphodiesterase beta subunit (PDE6B) gene, the incidence in Chinese patients with retinitis pigmentosa (RP) and their clinical phenotypic characteristics. Screening of mutations within PDE6B gene was performed using polymerase chain reaction-heteroduplex-single strand conformation polymorphism (PCR-SSCP) and DNA sequence in 35 autosomal recessive (AR) RP and 55 sporadic RP cases. The phenotypes of the patients with the gene mutation were examined and analyzed. Novel complex heterozygous variants of PDE6B gene in a sporadic case, a T to C transversion in codon 323 resulting in the substitution of Gly by Ser and 2 base pairs (bp: G and T) insert between the 27th-28th bp upstream of the 5'-end of exon 10 were both present in a same isolate RP. But they are not found in 100 unrelated healthy individuals. Ocular findings showed diffuse pigmentary retinal degeneration in the midperipheral and peripheral fundi, optic atrophy and vessel attenuation. Multi-focal ERG indicated that the rod function was more severely deteriorated. A mutation was found in a case with RP in a ARRP family, a G to A transversion at 19th base upstream 5'-end of exon 11 (within intron 10) of PDE6B gene. A sporadic RP carried a sequence variant of PDE6B gene, a G to C transition, at the 15th base adjacent to the 3'-end of exon l8. In another isolate case with RP was found 2 bp (GT) insert between 31st and 32nd base upstream 5'-end of exon 4 (in intron 3) of PDE6B gene. There are novel complex heterozygous mutations of PDE6B gene responsible for a sporadic RP patient in China. This gene mutation associated with rod deterioration and RP. Several DNA variants were found in introns of PDE6B gene in national population.
    [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 02/2003; 39(1):28-32.