Mitochondrial DNA polymorphisms in Italy. III. Population data from Sicily: a possible quantitation of maternal African ancestry

Ann Hum Genet. 1989 May;53(2):193-202. doi: 10.1111/j.1469-1809.1989.tb01784.x.

Abstract

mtDNA polymorphisms were studied in a sample of 90 individuals of the Sicilian population using six restriction enzymes: HpaI, BamHI, HaeII, MspI, AvaII and HincII. (1) Three new patterns, for MspI, AvaII and HincII, have been detected. (2) At least two different mutations were found to account for both the AvaII morph 3 and the AvaII morph 9 as in many other Caucasian groups so far examined. (3) Seventeen types were found; of these six are new. The frequency (54.5%) of type 1-2 (2.1.1.1.1.2) is lower than in the rest of Italy whereas those of type 6-2 (2.1.2.1.1.2) (10.0%) and type 18-2 (2.3.1.4.9*.2) (12.2%) lie at the upper level of the Italian range. The 18-derivative, type 57-2 (2.3.1.4.13*.2), which is consistently found in all Italian samples, is present also among Sicilians with an incidence of 2.2%. (4) Of particular interest is that the HpaI-3/AvaII-3 complex, which is unique to groups of African ancestry, was found in Sicily at a frequency of 4.4%. For the first time an estimate of the amount of gene flow from Blacks to the Sicilian gene pool could be obtained.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • Black People / genetics
  • DNA, Mitochondrial / genetics*
  • Deoxyribonuclease BamHI / metabolism
  • Deoxyribonuclease HpaII
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Gene Pool*
  • Genetics, Population*
  • Humans
  • Mutation
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Sicily
  • White People / genetics

Substances

  • DNA, Mitochondrial
  • Deoxyribonuclease BamHI
  • Deoxyribonuclease HpaII
  • endodeoxyribonuclease HaeII
  • endodeoxyribonuclease HpaI
  • Deoxyribonucleases, Type II Site-Specific
  • GGWCC-specific type II deoxyribonucleases
  • GTYRAC-specific type II deoxyribonucleases