MATERNAL INHERITANCE OF HUMAN MITOCHONDRIAL-DNA
MATERNAL INHERITANCE OF HUMAN MITOCHONDRIAL-DNA
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DOI：
10.1073/pnas.77.11.6715
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发表时间：
1980-01-01
期刊：
影响因子：
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通讯作者：
WALLACE, DC
中科院分区：
文献类型：
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作者：
GILES, RE;BLANC, H;WALLACE, DC
人线粒体DNA从几个独立家庭成员捐献的外周血血小板中获得。对这些样本进行了这些家族内个体之间的核苷酸序列多态性筛查。在每个家庭中，其中一个明显不同的限制性内切酶切割模式，显然在父母之间，被检测到，后代表现出母亲的切割模式。在一个由33名成员组成的3代家族中检测到Hae II（PuGCGCPy）的信息多态性，在一个由4名成员组成的2代家族中检测到HincII（GTPyPuAC）的信息多态性，在一个由4名成员组成的2代家族中检测到Hae III（GGCC）的信息多态性。Hae II的多态性进行了分析，通过所有3代的母系和父系。人类线粒体DNA显然是母系遗传的。所描述的使用外周血血小板作为人类线粒体DNA的来源的技术代表了一种方便的方式来获得在个体和群体中的线粒体DNA变异的数据。
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 a distinctly different restriction endonuclease cleavage pattern, evidently between the parents, was detected, the progeny exhibited the maternal cleavage pattern. Informative polymorphisms were detected for Hae II (PuGCGCPy) in a 3-generation family composed of 33 members, for HincII (GTPyPuAC) in a 2-generation family composed of 4 members, and for Hae III (GGCC) in a 2-generation family composed of 4 members. The Hae II polymorphism was analyzed through all 3 generations in both the maternal and paternal lines. The human mitochondrial DNA is evidently 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.