title: A rapid screening method for the identification of a single-nucleotide polymorphism in the carbonic anhydrase VI gene in studies of sensitivity to the bitter taste of 6-n-propylthiouracil.
abstract: The ability to perceive the bitter taste of 6-n-propylthiouracil (PROP) is a variable phenotype that has been associated with body mass index (in kg/m(2)) and linked to food choice and satiety. PROP-sensitive and -nonsensitive individuals are defined as tasters and nontasters, respectively. Sensitivity to PROP is a heritable trait based on the TAS2R38 gene on chromosome 7q34. In a recent study we demonstrated an association between PROP sensitivity and the single-nucleotide polymorphism (SNP) rs2274333 (+292A/G) within a coding sequence of the gustin/carbonic anhydrase VI gene. The purpose of this study was to develop a rapid and inexpensive screening method for identification of the rs2274333 SNP in individuals with varying sensitivity to PROP. Our results show that the methodology employed allows distinguishing A/G alleles perfectly, with a simple DNA digestion of a polymerase chain reaction fragment covering the SNP site of interest. So, the polymerase chain reaction followed by restriction fragment length polymorphism assay described in this article can be used as an alternative to sequencing in bitter taster status research, and could be employed as a survey tool in nutrigenomic studies.
authors.affiliation: Department of Experimental Biology, Section of General Physiology, University of Cagliari, Monserrato, Italy.
authors.forename: Iole Tomassini
authors.initials: IT
authors.lastname: Barbarossa
authors.forename: Elena
authors.initials: E
authors.lastname: Atzori
authors.forename: Andrea
authors.initials: A
authors.lastname: Zonza
authors.forename: Alessandra
authors.initials: A
authors.lastname: Padiglia
mesh_terms: D000328:Adult; D002256:Carbonic Anhydrases / Q000235:genetics*; D005518:Food Preferences / Q000502:physiology; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008403:Mass Screening / Q000379:methods*; D054647:Nutrigenomics / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011441:Propylthiouracil; D012680:Sensitivity and Specificity; D013649:Taste / Q000235:genetics; D013652:Taste Threshold / Q000235:genetics*; D013997:Time Factors; D055815:Young Adult
chemical_list: D011441:Propylthiouracil; D002256:Carbonic Anhydrases; C477051:carbonic anhydrase VI