Maternal inheritance of human mitochondrial DNA.

1980/11/01 by Richard E. Giles, Hugues Blanc, Howard M. Cann +1 · 17 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology #Birth, Development, and Health #Mitochondrial DNA #Genetics #Biology #Restriction enzyme #DNA #Non-Mendelian inheritance #Human mitochondrial genetics #Peripheral blood #Molecular biology #Endonuclease #Restriction fragment length polymorphism #Mitochondrion #Gene #Polymerase chain reaction #Immunology

paper · doi:10.1073/pnas.77.11.6715

openalex publication_date 1980/11/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

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 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.

Cited by

• Use of Y Chromosome and Mitochondrial DNA Population Structure in Tracing Human Migrations
• The Role of Selection in the Evolution of Human Mitochondrial Genomes
• Rate variation between mitochondrial domains and adaptive evolution in humans
• Classification of European mtDNAs From an Analysis of Three European Populations
• The Peopling of Korea Revealed by Analyses of Mitochondrial DNA and Y-Chromosomal Markers
• Mitochondrial DNA Sequence Variation and Phylogenetic Analysis in Japanese Individuals from Miyazaki Prefecture
• Base composition analysis of human mitochondrial DNA using electrospray ionization mass spectrometry: A novel tool for the identification and differentiation of humans
• Mitochondrial genome variation and the origin of modern humans
• The genetical history of humans and the great apes
• African Populations and the Evolution of Human Mitochondrial DNA
• LENGTH MUTATIONS IN HUMAN MITOCHONDRIAL DNA
• American Indian Prehistory as Written in the Mitochondrial DNA: A Review
• Dissecting the genetic structure of Korean population using genome-wide SNP arrays
• Mutation of mpv17 results in loss of iridophores due to mitochondrial dysfunction in tilapia
• Systematics and Mitochondrial Genome Evolution of Australian Rosellas (Aves: Platycercidae)
• Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans
• Mitochondrial Eve [wikipedia]