Angela
Elite member
- Messages
- 21,823
- Reaction score
- 12,329
- Points
- 113
- Ethnic group
- Italian
This is part of a study of the B-Thessalmia mutation
"Β-Thalassemia cod39 mutation found in an individual from a Punic necropolis (VI century BC-II
century AD) in Sardinia
Claudia Viganó1
Institute of Evolutionary Medicine, University of Zurich, Zurich, Switzerland, 2
Institute of Legal
Medicine, University of Zurich, Zurich, Switzerland
The Mediterranean island of Sardinia has been infected by malaria since VI century BC when, accordingto historical records, the Punics brought it from Northern Africa. Nowadays the island has the highest
frequencies of malaria genetic adaptations in Europe, with 10.7% of the population heterozygous forB-Thalassemia. In more than 95% of cases, it is caused by a single point mutation in cod39 of the betaglobin
gene. However, it is still debated whether the high frequency of cod39 mutation in Sardinia,
and its presence in the Western Mediterranean, reflects the colonization of the Mediterranean by the
Punics or a later migration of people out of Sardinia. Here we developed a PCR based method to
analyse 19 Sardinian samples collected in Punic and Roman necropolis. The Cod39 mutation was found
in an individual from the Punic period. In order to better understand the origin of this individual,
mitochondrial and Y chromosome haplotypes were also investigated. The mitochondrial haplotype is
U5a1, which is common in both Sardinian and Punic population. Y-chromosome haplogroup is I and is
present in 40.7% of the Sardinian population and in less than 2% within the populations in the areas
were the Punics originated. Further analysis to investigate the Y-chromosome haplogroup’s
subclades may give more information about the provenance of the individual and therefore about the
origin of cod39 mutation.
This just highlights some of the difficulties in interpretation of ancient dna. This is a person definitely buried in a Punic context. However, based on yDna it seems unlikely the direct paternal ancestry is from North Africa. What the autsomal dna would disclose is unclear, or how it relates to the uniparental markers.
"Β-Thalassemia cod39 mutation found in an individual from a Punic necropolis (VI century BC-II
century AD) in Sardinia
Claudia Viganó1
Institute of Evolutionary Medicine, University of Zurich, Zurich, Switzerland, 2
Institute of Legal
Medicine, University of Zurich, Zurich, Switzerland
The Mediterranean island of Sardinia has been infected by malaria since VI century BC when, accordingto historical records, the Punics brought it from Northern Africa. Nowadays the island has the highest
frequencies of malaria genetic adaptations in Europe, with 10.7% of the population heterozygous forB-Thalassemia. In more than 95% of cases, it is caused by a single point mutation in cod39 of the betaglobin
gene. However, it is still debated whether the high frequency of cod39 mutation in Sardinia,
and its presence in the Western Mediterranean, reflects the colonization of the Mediterranean by the
Punics or a later migration of people out of Sardinia. Here we developed a PCR based method to
analyse 19 Sardinian samples collected in Punic and Roman necropolis. The Cod39 mutation was found
in an individual from the Punic period. In order to better understand the origin of this individual,
mitochondrial and Y chromosome haplotypes were also investigated. The mitochondrial haplotype is
U5a1, which is common in both Sardinian and Punic population. Y-chromosome haplogroup is I and is
present in 40.7% of the Sardinian population and in less than 2% within the populations in the areas
were the Punics originated. Further analysis to investigate the Y-chromosome haplogroup’s
subclades may give more information about the provenance of the individual and therefore about the
origin of cod39 mutation.
This just highlights some of the difficulties in interpretation of ancient dna. This is a person definitely buried in a Punic context. However, based on yDna it seems unlikely the direct paternal ancestry is from North Africa. What the autsomal dna would disclose is unclear, or how it relates to the uniparental markers.