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Mitochondrial DNA polymorphisms in Italy I. Population data from Sardinia and Rome

1986; Wiley; Volume: 50; Issue: 4 Linguagem: Inglês

10.1111/j.1469-1809.1986.tb01754.x

1469-1809

Agnese Brega, Rosaria Scozzari, Liliana Maccioni, C. Iodice, Douglas C. Wallace, I Bianco, Antonio Cao, A. S. Santachiara Benerecetti,

Metabolism and Genetic Disorders

Summary The polymorphisms of human mitochondrial DNA were studied in about 150 Sardinians from Cagliari and 100 other Italians living in Rome, using total blood cell DNA and the following restriction enzymes: Hpa I , Bam HI , Hae II , Msp I , Ava II and Hinc II . 1. Seven different new morphs have been identified, one for Hae II , four for Ava II and two for Hinc II . 2. 16 and 17 mtDNA types were observed in the Sardinian and Roman samples, respectively. Of these only seven were shared by both groups. The morphs Bam HI ‐3, Msp I ‐4 and Ava II ‐9 were found associated at a frequency (100%) much higher than expected (0.17%). 3. Sardinians can be differentiated from the other Italians for a higher frequency of both morph Ava II‐1( P < 0.05) and type 1 (2–1–1–1–1) (P0.03), and for a lower intragroup heterogeneity (0.52 v . 0.61). 4. The Italian sample on the whole can also be differentiated from the Caucasian group previously examined for a lower frequency of Bam HI morph 2 (P Yates < 0.01), a higher frequency of Hae II morph 1 (P Yates < 002) and for the presence at a non‐negligible incidence (5 inviduals out of 229) of the new type 57–2 (2–3–1–4–13–2). The data indicate that mtDNA polymorphisms have not only proved to be a useful tool in detecting differences among major human groups but they can also differentiate populations within the same major ethnic division.