Contribution of HPC1 (RNASEL) and HPCX variants to prostate cancer in a founder population.

Background: Prostate cancer is a genetically complex disease with locus and disease heterogeneity. The RNASEL gene and HPCX locus have been implicated in hereditary prostate cancer; however, their contributions to sporadic forms of this malignancy remain uncertain.

Methods: Associations of prostate cancer with two variants in the RNASEL gene (a founder mutation, 471delAAAG, and a non-synonymous SNP, rs486907), and with five microsatellite markers in the HPCX locus, were examined in 979 cases and 1,251 controls of Ashkenazi Jewish descent.

Illumina DNA test panel-based genotyping of whole genome amplified-DNA extracted from hair samples: performance and agreement with genotyping results from genomic DNA from buccal cells.

Background: Hair is a DNA source that can be collected easily and inexpensively from participants in epidemiological studies. However, there is concern about DNA quality and quantity. Therefore, we assessed genotyping performance of whole genome amplified (WGA)-DNA extracted from hair using the GenomePlex method and evaluated its agreement with genotyping results of buccal cell DNA from the same individuals, using the Illumina GoldenGate platform.

Whole genome amplification of DNA extracted from hair samples: potential for use in molecular epidemiologic studies.

Background: Because of concerns regarding the quality and quantity of DNA isolated from human hair, such samples are often overlooked as a source of DNA for molecular epidemiological studies. Nevertheless, there are many potential benefits to using hair: it is easily self-collected; it does not require costly collection kits; it can be mailed for a nominal fee; and the hair specimens can be stored at room temperature. However, the amount of DNA that can be extracted from hair samples is somewhat limited.