Variability and distribution of COL1A2 (type I collagen) polymorphisms in the central-eastern Mediterranean Basin
Gabriele Scorrano1, Roberta Lelli1, Cristina Martínez-Labarga1
1a Centro di Antropologia molecolare per lo studio del DNA antico, Dipartimento di Biologia, Universitá degli Studi di Roma Tor Vergata , Rome , Italy .
Background:
The most abundant of the collagen protein family, type I collagen is encoded by the COL1A2 gene. The COL1A2 restriction fragment length polymorphisms (RFLPs) EcoRI, RsaI and MspI in samples from several different central-eastern Mediterranean populations were analysed and found to be potentially informative anthropogenetic markers.
Aim:
The objective was to define the genetic variability of COL1A2 in the central-eastern Mediterranean and to shed light on its genetic distribution in human groups over a wide geographic area.
Subjects And Methods:
PCR-RFLP analysis of EcoRI, RsaI and MspI polymorphisms of the COL1A2 gene was performed on oral swab and blood samples from 308 individuals from the central-eastern Mediterranean Basin. The genetic similarities among these groups and other populations described in the literature were investigated through correspondence analysis.
Results:
Single-marker data and haplotype frequencies seemed to suggest a genetic homogeneity within the European populations, whereas a certain degree of differentiation was noted for the Egyptians and the Turks.
Conclusions:
The genetic variability in the central-eastern Mediterranean area is probably a result of the geographical barrier of the Mediterranean Sea, which separated European and African populations over time.
Related Concept Videos
Type IV Collagen of Basal Lamina
A type IV collagen molecule has six alpha chains which can...
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Fibril-associated Collagen
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
Genetic Variation
Genes exist in different versions called alleles,...
Single Nucleotide Polymorphisms-SNPs


