Maternal inheritance of human mitochondrial DNA.

Abstract
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.