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PURPOSE To identify genetic defects associated with nuclear golden crystal autosomal dominant congenital cataract (ADCC) in a Chinese pedigree in the north of China. METHODS Clinical data were collected and the phenotype of the affected members in this family was recorded by slit lamp photography. Genomic DNA was isolated from peripheral blood. Linkage(More)
OBJECTIVE To identify what kind of TGFBI gene mutation happening to Chinese patients with corneal dystrophies. METHODS Three Chinese families with stromal corneal dystrophies and one Chinese family with Thiel-Behnke corneal dystrophies were studied, of whom three were Han race and another was Mongolia race in China. All members of families were examined(More)
OBJECTIVE To identify genetic defects associated with autosomal dominant congenital golden crystal nuclear cataract (ADCC) in a Chinese pedigree of northern China. METHODS Clinical data were collected and the lens changes of the affected members in this family were recorded by slit lamp photography. Genomic DNA was obtained from blood leucocytes. Linkage(More)
PURPOSE To identify the genetic defect in an autosomal dominant congenital coronary cataract family (ADCCC). METHODS A Chinese family with ADCC was identified and characterized. All the members were genotyped with microsatellite markers at genes and loci that were considered to be associated with hereditary cataracts. Linkage analysis was performed after(More)
OBJECTIVE To identify the genetic defect causing automosal dominant congenital cataracts (ADCC) with nuclear opacities in a Chinese pedigree. METHODS Linkage analysis was carried out with the short tandem repeat polymorphisms flanking the candidate genes. Mutation analysis of the candidate gene in the critical region was performed to detect the potential(More)
OBJECTIVE To identify the gene mutation in autosomal dominant Thiel-Behnke corneal dystrophy affecting a five-generation Chinese family. To study the TGFBI gene mutation in Chinese patients with Thiel-Behnke corneal dystrophy by molecular genetic analysis. METHODS Ophthalmologic examinations were performed in 10 patients and two normal family members in(More)
PURPOSE To identify the disease-associated locus in a Chinese family with autosomal-dominant inherited nuclear cataract. METHODS Genomic DNAs were obtained from 17 family members in a four-generation Chinese family, who had eight members affected with cataract. Exclusive linkage analysis of known candidate inherited cataract loci was performed. A(More)
Congenital cataracts are an important cause of blindness worldwide. In a family of Chinese descent, a dominant congenital nuclear cataract locus was mapped to chromosome 17q11.1-12. The maximum LOD score, 2.49, at recombination fraction 0, was obtained for marker D17S1294. The results of both linkage and haplotype analyses defined a disease-gene to an(More)
OBJECTIVE To identify the genetic mutation in two Chinese families and 6 sporadic patients with belpharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS Polymorphisms of 5 satellite markers on 3q were analyzed and linkage analysis was performed using linkage software (MLINK) in all cases of two families. FOXL2 gene fragments were amplified by(More)
Congenital cataracts are a significant cause of visual impairment in childhood. They have a high incidence and are a significant cause of vision loss world wide causing approximately one tenth of childhood blindness [1]. Roughly 50% of congenital cataracts are hereditary and family studies have revealed that approximately 30% of children with bilateral(More)