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Abstract #19959 Published in IGR 9-4
Analysis of the CYP1B1 gene mutation in primary congenital glaucoma patients of Hubei Han nationality
Jiang FG; Liu XW; Hou HPZhonghua Yan Ke Za Zhi 2007; 43: 779-783
OBJECTIVE: To identify novel CYP1B1 gene mutation in primary congenital glaucoma (PCG) patients of Hubei Han nationality and establish the possibility of gene diagnosis of PCG. METHODS: Forty-seven patients with PCG and 100 normal subjects were studied. Genomic DNA was extracted from the peripheral leukocytes of all subjects. Mutation in exon 2 and exon 3 of CYP1B1 gene was detected in patients and control subjects by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP), denaturing high performance liquid chromatograph (DHPLC), and direct sequencing DNA techniques. RESULTS: Compared to normal subjects, a novel mutation was first time identified by direct sequencing demonstrating a homozygous C-to-T transition at codon 385 (CTT to TTT) which produced L385F mutation of CYP1B1 gene in seven of the 47 patients with PCG. CONCLUSIONS: The novel mutation in exon 3 of CYP1B1 found in PCG patients of Hubei Han nationality was probably pathological mutant gene by nature. It is important that further study be conducted to seek for the specific mutations of CYP1B1 gene and underlying pathological mechanism of PCG patients of Han nationality. LA: Chinese
Dr. F.G. Jiang, Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
