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Racial differences in restriction fragment length polymorphisms and messenger RNA inducibility of the human CYP1A1 gene.

Recent studies have examined the relationship between genetic polymorphisms of the human cytochrome P-4501A1 (CYP1A1) gene and lung cancer susceptibility. We have quantified genotypic frequencies and measured gene expression in the CYP1A1 gene within racially diverse groups in order to determine the relationship between genotype and transcriptional regulation of the CYP1A1 gene. Lymphocytes were obtained from 68 individuals of European-American, African-American, and Asian descent, and CYP1A1 gene inducibility was measured in mitogen-stimulated cells. CYP1A1 gene inducibility was significantly lower in African-Americans than in European-Americans or Asians, while several other population parameters were found to have no effect on gene expression levels. Restriction fragment length polymorphism analysis of lymphocyte DNA following MspI restriction enzyme digestion revealed a significant difference in the frequencies of CYP1A1 genotypes between European-Americans and Asians. The only homozygous variants detected were of Asian descent. The frequencies of CYP1A1 genotypes in all races conformed to Hardy-Weinberg genotypic equilibrium. When CYP1A1 gene inducibility was compared to CYP1A1 genotype, no significant correlations were found. These studies, along with our previous survey of CYP1A1 gene expression in creosote-exposed workers, add further support to the use of CYP1A1 gene inducibility as a potential marker of polycyclic aromatic hydrocarbon exposure in human populations.

Adult↗
PubMed1990

[DNA diagnosis of beta-thalassemia. Study of restriction fragment length polymorphisms in families with affected children].

A kit of DNA-probes directed at the cluster of human beta-globulin genes was used to study the incidence rate of 7 polymorphic restriction sites in beta-thalassemia patients and normal donors in the Azerbaijan SSR. Informative polymorphic sites Hind III were detected in GJ and AJ fetal globin genes, Hinc II in psi beta and Hinc III in 3' area of psi beta gene and Ava II in beta-globine gene differing in the incidence rate in the patients and donors. An analysis of haplotypes with respect to informative sites was made in two Azerbaijan families with an affected child. It has been found that the analysis with respect to one informative site is sufficient for prenatal diagnosis of the status of the following children.

Adult↗
PubMed1996

Restriction fragment length polymorphism in amplification products of the bovine butyrophilin gene: assignment of bovine butyrophilin to bovine chromosome 23.

A polymorphism was identified in the bovine butyrophilin (BTN) gene by digesting polymerase chain reaction products with the restriction enzyme HaeIII. This polymorphism was segregating in a Holstein-Friesian sire selected as part of an ongoing study directed towards the identification of quantitative trait loci affecting milk composition. Screening of a half-sib family established for the heterozygous sire allowed the localization of BTN to bovine chromosome 23 (BTA23).

Animals↗