Polymorphisms of the COL1A2, CYP1A1 and HS1,2 Ig enhancer genes in the Tuaregs from Libya
Martinez-Labarga, Cristina × Lelli, Roberta Tarsi, Tiziana Babalini, Carla De Angelis, Flavio Ottoni, Claudio Giambra, Vincenzo Pepe, Guglielmina Azebi, Ebrahim Frezza, Domenico Biondi, Gianfranco Rickards, Olga #
Annals of Human Biology vol:34 issue:4 pages:425-36
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. AIM: 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. SUBJECTS AND 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.