[Analysis of the CYP1B1 gene mutation in primary congenital glaucoma patients of Hubei Han nationality].
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 exon2 and exon3 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 7 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.
Jiang
Fa-gang
FG
Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Liu
Xiao-wen
XW
Hou
He-ping
HP
D001189:Aryl Hydrocarbon Hydroxylases; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004247:DNA; D005091:Exons; D005796:Genes; D005901:Glaucoma / Q000151:congenital / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D009154:Mutation
D004247:DNA; D003577:Cytochrome P-450 Enzyme System; D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1