Gélinas Y, Turcotte L, Bouchard C, Thibault M C, Dionne F T
Physical Activity Sciences Laboratory, PEPS, Laval University, Ste-Foy, Québec, Canada.
Ann Hum Genet. 1989 Oct;53(4):319-25. doi: 10.1111/j.1469-1809.1989.tb01801.x.
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.
使用BstNI和BclI这两种酶，在104名无亲缘关系的法裔加拿大人样本中检测了各种人类线粒体DNA限制性片段长度多态性（RFLP）。这些序列变异是在用整个人类线粒体DNA探测的全血白细胞DNA中发现的。使用BstNI时，鉴定出6种线粒体DNA限制性模式（形态）。BstNI形态2 - 6与形态1的区别在于线粒体DNA分子上单个独特限制性位点的获得或缺失。尽管大多数受试者（80%）中发现了BstNI形态1，但其他每种形态的观察频率至少为3%。使用BclI酶时，检测到4种不同的形态。与BclI形态1相比，形态2 - 4也源于不同的单个限制性位点改变。形态1显然是最常见的（95%），而形态3和4仅在1%的受试者中出现。这些数据表明，BstNI酶以及在程度上小得多的BclI酶可检测白种人中的线粒体DNA多态性。因此，它们对于群体遗传学研究具有重要意义。
