Giles R E, Blanc H, Cann H M, Wallace D C
Proc Natl Acad Sci U S A. 1980 Nov;77(11):6715-9. doi: 10.1073/pnas.77.11.6715.
Human mitochondrial DNA was obtained from peripheral blood platelets donated by the members of several independent families. The samples were screened for nucleotide sequence polymorphisms between individuals within these families. In each family in which we were able to detect a distinctly different restriction endonuclease cleavage pattern between the parents, the progeny exhibited the maternal cleavage pattern. Informative polymorphisms were detected for Hae II (PuGCGCPy) in a three-generation family composed of 33 members, for HincII (GTPyPuAC) in a two-generation family composed of four members, and for Hae III(GGCC) in a two-generation family composed of four members. The Hae II polymorphism was analyzed through all three generations in both the maternal and paternal lines. The results of this study demonstrate that human mitochondrial DNA is maternally inherited. The techniques described for using peripheral blood platelets as a source of human mitochondrial DNA represent a convenient way to obtain data on mitochondrial DNA variation in both individuals and populations.
人类线粒体DNA取自几个独立家庭成员捐献的外周血血小板。对这些家庭中个体之间的核苷酸序列多态性进行了筛查。在每个我们能够检测到父母之间明显不同的限制性内切酶切割模式的家庭中，子代呈现出母系切割模式。在一个由33名成员组成的三代家庭中检测到了Hae II（PuGCGCPy）的信息性多态性，在一个由4名成员组成的两代家庭中检测到了HincII（GTPyPuAC）的信息性多态性，在一个由4名成员组成的两代家庭中检测到了Hae III（GGCC）的信息性多态性。对Hae II多态性在母系和父系的三代中都进行了分析。本研究结果表明人类线粒体DNA是母系遗传的。所描述的使用外周血血小板作为人类线粒体DNA来源的技术是一种获取个体和群体线粒体DNA变异数据的便捷方法。
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