title: Mitochondrial DNA polymorphism detected with the restriction enzymes BstNI and BclI in a French Canadian population.
abstract: The enzymes BstNI and BclI were used to detect various human mitochondrial DNA RFLPs in a sample of 104 unrelated French Canadians. These sequence variations were found in total white blood cell DNA probed with whole human mitochondrial DNA. With BstNI, 6 mitochondrial DNA restriction patterns (morphs) were identified. BstNI morphs 2-6 each differ from morph 1 by one single distinct restriction site gain or loss on the mitochondrial DNA molecule. Although BstNI morph 1 was found in most of the subjects (80%), each other morph was observed at a frequency of at least 3%. With the enzyme BclI, 4 different morphs were detected. Morphs 2-4 also result from different single restriction site alteration as compared with BclI morph 1. The morph 1 was clearly the most frequent (95%) while morphs 3 and 4 were present in only 1% of the subjects. These data indicate that the enzyme BstNI and, to a much lesser extent, the enzyme BclI detect mitochondrial DNA polymorphism in Caucasians. They are therefore of interest for population genetics studies.
authors.affiliation: Physical Activity Sciences Laboratory, PEPS, Laval University, Ste-Foy, Québec, Canada.
authors.forename: Y
authors.initials: Y
authors.lastname: Gélinas
authors.forename: L
authors.initials: L
authors.lastname: Turcotte
authors.forename: C
authors.initials: C
authors.lastname: Bouchard
authors.forename: M C
authors.initials: MC
authors.lastname: Thibault
authors.forename: F T
authors.initials: FT
authors.lastname: Dionne
mesh_terms: D002170:Canada; D004272:DNA, Mitochondrial / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D005602:France / Q000208:ethnology; D005787:Gene Frequency; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D004272:DNA, Mitochondrial; C041666:endodeoxyribonuclease BclI; C046545:CCWGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific