title: Polymorphisms of the COL1A2, CYP1A1 and HS1,2 Ig enhancer genes in the Tuaregs from Libya.
abstract: BACKGROUND
  Restriction fragment length polymorphisms (RFLPs) of the COL1A2 and CYP1A1 and short tandem repeats of HS1,2 Ig enhancer genes are proving to be useful markers for describing human populations and thus are of interest for anthropogenetic research. Moreover, they can provide useful information in identifying alleles and haplotypes associated with particular forms of common diseases or for pharmacogenomics studies.
  
  
  OBJECTIVE
  The objective of this study was to define the genetic structure of Libyan Tuaregs and to establish the degree of genetic homogeneity amongst the El Awaynat and Tahala groups.
  
  
  METHODS
  Tuareg individuals from El Awaynat (n = 99) and Tahala (n = 18), in Libyan Sahara, were analysed for the RFLPs of COL1A2 and CYP1A1 and short tandem repeats of HS1,2 Ig enhancer genes. In order to provide a clearer picture of COL1A2, CYP1A1 and HS1,2 Ig enhancer allele and haplotype frequency distributions in various human groups distributed over a wide geographic area, comparisons with other African, European and Asian populations were carried out by analysis of molecular variance (AMOVA) and genetic distance analysis.
  
  
  RESULTS
  No significant level of differentiation was evident between the two Libyan Tuareg groups according to AMOVA. For the CYP1A1 gene, a possible new haplotype was observed, even though at a very low frequency. Linkage disequilibrium was assessed only for COL1A2, since CYP1A1 turned out to be poorly polymorphic for m2 and m3.
  
  
  CONCLUSIONS
  Statistical analyses showed that Tuaregs from Libya are located in a intermediate position between south Saharan populations on one side and the Europeans and the Asians on the other.
authors.affiliation: University of Rome Tor Vergata, Rome, Italy. martine@uniroma2.it
authors.forename: Cristina
authors.initials: C
authors.lastname: Martinez-Labarga
authors.forename: Roberta
authors.initials: R
authors.lastname: Lelli
authors.forename: Tiziana
authors.initials: T
authors.lastname: Tarsi
authors.forename: Carla
authors.initials: C
authors.lastname: Babalini
authors.forename: Flavio
authors.initials: F
authors.lastname: De Angelis
authors.forename: Claudio
authors.initials: C
authors.lastname: Ottoni
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Giambra
authors.forename: Guglielmina
authors.initials: G
authors.lastname: Pepe
authors.forename: Ebrahim
authors.initials: E
authors.lastname: Azebi
authors.forename: Domenico
authors.initials: D
authors.lastname: Frezza
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Biondi
authors.forename: Olga
authors.initials: O
authors.lastname: Rickards
mesh_terms: D000293:Adolescent; D000328:Adult; D044383:Black People / Q000208:ethnology / Q000235:genetics; D003094:Collagen / Q000235:genetics*; D024042:Collagen Type I; D019363:Cytochrome P-450 CYP1A1 / Q000235:genetics*; D004742:Enhancer Elements, Genetic / Q000235:genetics*; D005260:Female; D050438:Genes, Immunoglobulin Heavy Chain / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D007136:Immunoglobulins / Q000235:genetics; D008002:Libya; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044382:Population Groups / Q000235:genetics*; D014171:Transients and Migrants
chemical_list: D024042:Collagen Type I; D007136:Immunoglobulins; D003094:Collagen; D019363:Cytochrome P-450 CYP1A1