Allele-frequency determination of BsmI and FokI polymorphisms of the VDR gene by quantitative real-time PCR (QRT-PCR) in pooled genomic DNA samples

The Journal of Steroid Biochemistry and Molecular Biology
J M QuesadaG Dorado

Abstract

The vdr gene is a candidate for osteoporosis susceptibility, with conflicting results in association studies. We have designed and optimized an individual allele-specific and DNA pooling PCR-based methodology to quantitate BsmI and FokI polymorphisms of the vdr gene and studied single-nucleotide polymorphisms (SNPs) from pooled DNA samples. The allele frequency in DNA pooling experiments has been analyzed by kinetic PCR: quantitative real-time PCR (QRT-PCR). A Spanish cohort of 225 healthy postmenopausal women was studied. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry (DEXA) and quantitative ultrasound calcaneous densitometry. Allele-specific PCR amplification of BsmI and FokI genes showed full concordance with the PCR-RFLP approach. The prevalence of the three BsmI VDR genotypes was 19.1, 44.9 and 36.0% for BB, Bb and bb, respectively. In the case of the FokI locus, the prevalence of genotypes was 40.4, 48.0 and 11.6% for FF, Ff and ff, respectively. No positive correlation was found between polymorphism and BMD. The DNA pooling procedure was validated. No differences were found in allele frequencies and T-score data obtained using the high throughput DNA pooling approach, as compared to known ind...Continue Reading

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Citations

Oct 20, 2012·Journal of Bone and Mineral Metabolism·Neha SanwalkaVaman Khadilkar
Jul 5, 2008·Journal of Bone and Mineral Metabolism·Adriana PérezNori Tolosa de Talamoni
Sep 26, 2006·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Yong-Jun LiuHong-Wen Deng
Sep 27, 2006·Clinica Chimica Acta; International Journal of Clinical Chemistry·Antonio Casado-DíazGabriel Dorado
Oct 30, 2008·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Urszula Tworowska-BardzińskaAndrzej Milewicz

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