Mitochondrial DNA polymorphisms in Italy. III. Population data from Sicily: a possible quantitation of maternal African ancestry.
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.
Semino
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Dipartimento di Genetica e Microbiologia 'A. Buzzati-Traverso', Università di Pavia, Italy.
Torroni
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Scozzari
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R
Brega
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De Benedictis
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G
Santachiara Benerecetti
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AS
D000349:Africa; D044383:Black People / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D015245:Deoxyribonuclease BamHI / Q000378:metabolism; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005788:Gene Pool; D005828:Genetics, Population; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012802:Sicily; D044465:White People / Q000235:genetics
D004272:DNA, Mitochondrial; D015245:Deoxyribonuclease BamHI; D019003:Deoxyribonuclease HpaII; C031851:endodeoxyribonuclease HaeII; C024406:endodeoxyribonuclease HpaI; D015252:Deoxyribonucleases, Type II Site-Specific; C038308:GGWCC-specific type II deoxyribonucleases; C024400:GTYRAC-specific type II deoxyribonucleases