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Polymorphic sites in human mitochondrial DNA control region sequences: population data and maternal inheritance by Anne Baasner; Claudia Schäfer; Anke Junge; Burkhard Madea is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Polymorphic sites in human mitochondrial DNA control region sequences: population data and maternal inheritance about?

Sequence analysis of the mitochondrial DNA (mtDNA) control region is of central importance for forensic identity testing as well as for studies of human evolution. Here we report the sequencing data of the hypervariable regions I and II from 50 unrelated individuals from a western German population (Rhine area). In regions I and II, 52 and 26 sites of sequence polymorphism, respectively, were noted. Nucleotide substitution rather than insertion / deletion was the majority of variation. The distribution showed a large bias towards transitional changes than transversional changes. Furthermore we investigated uniparental inheritance in seven CEPH families each family with 7-9 maternal descendants. Most maternal relatives shared identical mtDNA sequences. Additionally sequences were compared for father:child pairs and as expected no evidence for paternal transmission of mtDNA was observed. The high variability of mtDNA control region sequences permits utility in forensic identity investigations. The data also indicate that the neomutation rate seems to be very low from one generation to the other.

Who reads Polymorphic sites in human mitochondrial DNA control region sequences: population data and maternal inheritance?

Author

Anne Baasner; Claudia Schäfer; Anke Junge; Burkhard Madea

Publisher

Elsevier Science; Elsevier ; Elsevier BV (ISSN 0379-0738)

Published

1998

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)