Mitchondrial control-region sequence variation in aboriginal Australians

Article Abstract:

The mitochondrial D-loop hypervariable segment 1 (mtHVS1) between nucleotides 15997 and 16377 has been studied in aboriginal Australians from Yuendumu in central Australia and from the Darling River region of New South Wales, desert and riverine communities, respectively. Unique HSF1 types numbering 47 were identified. There is some statistically significant structure in the populations seen from pairwise analysis by calculation of between population proportion index (BEPPI). Some identical HVS1 types are in the two contrasting regions and mtHVS1 types may show more ancient distributions than linguistic diversity and other culture factors do. The studies show the greatest divergence from some Africans and least from Papua New Guinea highlanders. They showed only a little more from some Pacific groups. Distribution of some factors indicates that they may show different groups of prehistoric colonizers going into Australia time at a time not easy to pin down.

Australia, Emigration and immigration, Evolution (Biology), Evolution, Population genetics, Indigenous peoples

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Evidence from human oocytes for a genetic bottleneck in an mtDNA disease

Article Abstract:

Rearranged mtDNA was detected at significant levels in most of the oocytes of a patient with Kearn-Sayre syndrome. Wide variation in the amount of mutant and wild-type molecules was observed between individual oocytes. Founder subpopulations of mtDNAs could be identified based on variation in length in a homopolymeric C tract. Prenatal diagnosis may be possible because the genetic bottleneck had occurred by the time the oocytes reached maturity. Segregating units occur in an amount three to five orders of magnitude less than the number of mitochondria in a human female oocyte.

Oocytes, Oocyte donation

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Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers

Article Abstract:

Mitochondrial DNA (mtDNA)-deletion mutations in vastus lateralis (VL) muscle of human subjects aged 49-93 years is examined using both histologic and polymerase-chain-reaction (PCR) analyses to determine the physiological and genomic integrity of mitochondria in aging human muscle. The results demonstrate that the mtDNA-deletion mutations accumulate intracellularly to detrimental levels (>90% of the total mtDNA) in aged human skeletal muscle fibers.

Organizational history, Science & research, Physiological aspects, Gene mutations, Gene mutation, Observations, Company restructuring/company reorganization, Reorganization and restructuring, Polymerase chain reaction, Muscles, Company organization, Skeletal muscle, Clinical report

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