title: Variability and distribution of COL1A2 (type I collagen) polymorphisms in the central-eastern Mediterranean Basin.
abstract: 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.
  
  
  OBJECTIVE
  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.
  
  
  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.
authors.affiliation: a Centro di Antropologia molecolare per lo studio del DNA antico, Dipartimento di Biologia, Universitá degli Studi di Roma Tor Vergata , Rome , Italy .
authors.forename: Gabriele
authors.initials: G
authors.lastname: Scorrano
authors.affiliation: a Centro di Antropologia molecolare per lo studio del DNA antico, Dipartimento di Biologia, Universitá degli Studi di Roma Tor Vergata , Rome , Italy .
authors.forename: Roberta
authors.initials: R
authors.lastname: Lelli
authors.affiliation: a Centro di Antropologia molecolare per lo studio del DNA antico, Dipartimento di Biologia, Universitá degli Studi di Roma Tor Vergata , Rome , Italy .
authors.forename: Cristina
authors.initials: C
authors.lastname: Martínez-Labarga
authors.affiliation: a Centro di Antropologia molecolare per lo studio del DNA antico, Dipartimento di Biologia, Universitá degli Studi di Roma Tor Vergata , Rome , Italy .
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Scano
authors.affiliation: a Centro di Antropologia molecolare per lo studio del DNA antico, Dipartimento di Biologia, Universitá degli Studi di Roma Tor Vergata , Rome , Italy .
authors.forename: Irene
authors.initials: I
authors.lastname: Contini
authors.affiliation: b Zoology Department, Faculty of Science , Suez University , Suez , Egypt .
authors.forename: Hani S
authors.initials: HS
authors.lastname: Hafez
authors.affiliation: c Institute for Anthropological Research , Zagreb , Croatia , and.|d Anthropological Center of the Croatian Academy of Sciences and Arts , Zagreb , Croatia.
authors.forename: Pavao
authors.initials: P
authors.lastname: Rudan
authors.affiliation: a Centro di Antropologia molecolare per lo studio del DNA antico, Dipartimento di Biologia, Universitá degli Studi di Roma Tor Vergata , Rome , Italy .
authors.forename: Olga
authors.initials: O
authors.lastname: Rickards
mesh_terms: D024042:Collagen Type I / Q000235:genetics*; D017523:Croatia; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D005843:Geography; D006239:Haplotypes; D006801:Humans; D007558:Italy; D016013:Likelihood Functions; D008297:Male; D019083:Mediterranean Region; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D055771:Serbia; D014421:Turkey
chemical_list: C000601279:COL1A2 protein, human; D024042:Collagen Type I
keywords: COL1A2 polymorphisms; Mediterranean variability; PCR-RFLP analysis