Gore A (Genetics) will perform the following services:Service 1: Manage clinical samplesCore A will coordinate the retrieval of blood and cheek cell samples from the 3000 cases and controls storedin the Channing Laboratory biorepository and the preparation of DMA from these samples.Service 2: Perform mutational analysis of candidate genes. Core A will use direct DNA sequence analysis toidentify DNA sequence variants in 34 candidate genes chosen on the basis of roles in calcium, oxalate,urate, and citrate homeostasis. SNP data from these genes will be used by Projects 1 and 2 for studies ofthe effect of genetic variants on protein function as well as the epidemiologic studies of Project 3.Service 3: Genotype variants (cSNPs defined as above and tagging SNPs) in 1500 stone formers and 1500controls. Core A will manage the SNP genotyping efforts of this program. This will include cSNPs (identifiedas above) and a set of tagging SNPs. The genotyping of other polymorphisms of specific interest toindividual projects will also be performed by the Core.Service 4: Maintain database and public website. Dissemination of the large volume of genetic datagenerated will be an important goal of this Program Project. The core will maintain a database of all geneticinformation obtained via Services 2 and 3. A publicly accessible website will make data quickly available tothe outside community.Service 5: cDNA construct production. Design, construction, mutagenesis, and verification of cDNA clonesfor expression studies in Projects 1 and 2 will be performed in Core A. The Core will also develop additionalexpression constructs to facilitate outside collaborations.Service 6: Mouse genotyping. Projects 1 and 2 will require ongoing mouse DNA preparation and genotyping.This genotyping will be performed by Core A in order to increase quality control and efficiency of mouseanalyses.In summary, the core will facilitate efforts of the Projects by coordination of genomic DNA preparation,sequencing, and genotyping (human and mouse studies), facilitation of the functional examination of genevariants via construct production, and management of data sharing with outside investigators.
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