Molecular genetic analysis of Cytochrorne P4501B1 and allied genes

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1)Cytochrome P4501B1(CYPIBi)is a causative gene of congenital glaucoma, and dispersion has been shown within the gene by diverse clinical manifestations.There are also polymorphic substitutions in the CYP1BI gene.Considering genetic linkage with the disease susceptibility, CYP lB I genetic polymorphism was examined among patients with adult-onset primary open angle glaucoma.Frequency of each genotype was as follows in the order of the POAG patients, the normal controls, when it is shown by the number of examples of the displacement homozygote/heterozygote/normal homozygote.They were 8/11/76, 3/18/93 for R48G ; 12/52/31, 20/53/47 for A119S ; 2/3/83, 1/11/125 for A330V, and 0/7/83, 0/6/82 for S331R.Although statistical approval was given about' the genotype frequency between the groups, there was no specific genotype which recommended significant difference.2)Novel pathological gene mutations were found in two retinoschisis families(RS 1 gene)and a Norrie disease family(ND gene).3)To investigate the anthropological background and the association of mitochondrial DNA(mtDNA) haplotype with the disease phenotype, nucleotide sequence in the hypervariable segment of the displacement loop(D-loop)region of mtDNA was determined in Japanese patients with Leber's hereditary optic neuropathy(LHON)harboring G11778A mutation.Genetic polymorphism of mtDNA was examined in 36 unrelated Japanese LHON patients who presented with bilateral optic nerve disease and had mtDNA G11778A mutation.From the data set of nucleotide alignments, the phylogeny of mtDNA sequence and phenotypic diversity within the examined population were evaluated.One-base polymorphism was present at 37 different sites.There was not any definite ancestral haplotype of the D-loop sequence in the examined LHON population.Thus, the mutational event of GI 1778A appears to be independent of the evolutionary course in the D-loop haplotype.