Genetic polymorphisms of CYP2E1 and GSTM1 in a Thai population.

Cytochrome P450 2E1 and GSTM1 play major roles in metabolic activation and detoxification of many carcinogens and polymorphisms in the encoding genes have been reported to be individually associated with increased susceptibility to certain cancer. In the present study, we investigated the RsaI, PstI and DraI polymorphisms of the CYP2E1 gene and the null GSTM1 genotype in a Thai population. DNA samples from 485 individuals were analysed by polymerase chain reaction with restriction fragment length (PCR/RFLP). The frequency of RsaI and PstI predominant homozygous alleles (c1/c1) was 73.2%, heterozygous allele (c1/c2) was 25.6% and rare homozygous allele (c2/c2) was 1.2%. For the DraI polymorphism, the frequency of the predominant allele (DD) was 59.6%, heterozygous (CD) was 40% and rare allele (CC) was 0.4%. The frequency of GSTM1 null genotype was 62.7%. The distribution and frequencies of these alleles showed different pattern from those found in Caucasian and some other Asian populations. With the large population in this study, we believed that our results are reliable estimates of the frequencies of the polymorphic CYP2E1 and GSTM1 alleles in Thai population and should provide a base for further epidemiological studies on their links with cancer development.

Association of Vitamin D Receptor Gene Polymorphism and Parkinson's Disease in Koreans

1alpha,25-dihydroxyvitamin D3 (1,25(OH)2D3), which is the biologically active form of vitamin D, has anti-inflammatory effects and can prevent experimental Parkinson's disease (PD). 1,25(OH)2D3 exerts most of its actions only after it binds to its specific nuclear receptors. Eighty-five Korean patients with PD and 231 unrelated healthy individuals were evaluated to determine if vitamin D receptor gene (VDRG) BsmI polymorphisms were markers for the susceptibility to PD in Korean patients. Each polymorphism was detected using polymerase chain reaction (PCR)-based restriction analysis. In addition, the relationship between the BsmI polymorphisms and the clinical manifestations of PD was evaluated. Overexpression of the b allele (91.2 vs. 85.7%; p=0.069) and homozygote bb (84.7 vs. 72.7%; p=0.043) was found in the PD patients compared with the controls. These results show for the first time an association between PD and a VDRG polymorphism, which might be involved in the pathogenesis of PD, or in the linkage disequilibrium of the VDRG to another pathogenic gene locus.

Alterations in brain tumor DNA detected by a fingerprinting probe.

We used a novel DNA fingerprinting probe O-chi-1 (ref. 1) to detect differences in the hybridization pattern of brain tumor DNA and paired normal tissue of a given individual. Representatives of meningiomas (two), glioblastoma multeforme (three) and astrocytoma (one) were studied. Alterations, which included amplification as well as the loss of a normal band in tumor DNA, were observed in four of the six tumours. While the increased intensity of a band can be taken to imply increased copy number, the disappearance of bands could either be due to loss of DNA sequence or rearrangement resulting in different sized bands.