The COL1A2 gene is one of the two genes encoding for the polypeptides of type I collagen, that represent the major constituent of skin, bone, tendons, ligaments, blood vessels, dentin, and many interstitial tissues. The COL1A2 gene deletion polymorphism has been considered as an informative anthropological marker for describing geographically distinct human populations. Aim of the present study was to investigate the genetic variability at COL1A2 locus in two populations, one belonging to Ouangolodougou (n = 133), a vil- lage placed in Northern Ivory Coast, and one belonging to Lecco (n = 70), a village placed in a Northern Italy region called Lombardy. For each sampled population no data are available in literature. We reported, for the first time, the presence of the deleted allele among Ivorians (0.06), confirming the low deletion frequency of this polymorphism found in Sub Saharan Africa by other authors. For Italians, frequency analysis of this gene polymorphism (0.28 for the deleted allele) did not show any significant level of differentiation with respect to other Italian and European populations.
COL1A2 Gene Deletion Polymorphism in an Italian and an Ivorian Populations
SANTOVITO, Alfredo;CERVELLA, Piero;DELPERO, Massimiliano
2009-01-01
Abstract
The COL1A2 gene is one of the two genes encoding for the polypeptides of type I collagen, that represent the major constituent of skin, bone, tendons, ligaments, blood vessels, dentin, and many interstitial tissues. The COL1A2 gene deletion polymorphism has been considered as an informative anthropological marker for describing geographically distinct human populations. Aim of the present study was to investigate the genetic variability at COL1A2 locus in two populations, one belonging to Ouangolodougou (n = 133), a vil- lage placed in Northern Ivory Coast, and one belonging to Lecco (n = 70), a village placed in a Northern Italy region called Lombardy. For each sampled population no data are available in literature. We reported, for the first time, the presence of the deleted allele among Ivorians (0.06), confirming the low deletion frequency of this polymorphism found in Sub Saharan Africa by other authors. For Italians, frequency analysis of this gene polymorphism (0.28 for the deleted allele) did not show any significant level of differentiation with respect to other Italian and European populations.File | Dimensione | Formato | |
---|---|---|---|
RJG857.pdf
Accesso riservato
Tipo di file:
MATERIALE NON BIBLIOGRAFICO
Dimensione
171.89 kB
Formato
Adobe PDF
|
171.89 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.