Citation
Family-Based Testing For Contribution Of Tyrp1 Gene Polymorphisms To The Risk Of Vitiligo

Material Information

Title:
Family-Based Testing For Contribution Of Tyrp1 Gene Polymorphisms To The Risk Of Vitiligo
Series Title:
19th Annual Undergraduate Research Symposium
Creator:
Rayburn, Catherine
Language:
English
Physical Description:
Undetermined

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Subjects / Keywords:
Center for Undergraduate Research
Center for Undergraduate Research
Genre:
Conference papers and proceedings
Poster

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Abstract:
Vitiligo is disease that occurs when the immune system attacks the melanocytes in the skin, causing loss of pigment ("white" spots). The main areas affected by vitiligo are the hands, knees, feet, elbows, mouth and eyes. There are no cures for the disease, just light therapies that must be maintained to see results, and are rarely completely effective. Vitiligo has a profound effect on the psychosocial aspects of affected children and adults. Our lab is trying to identify susceptibility genes, as vitiligo can run in families. Tyrosinase-related protein 1 (TYRP1) is an enzyme involved in melanin synthesis, and so its gene is a logical vitiligo candidate. For my research project, I am genotyping three single-nucleotide polymorphisms in TYRP1 (rs 2733832, rs 2762462, and rs 1408799) in affected families to look for an association between these variants and the onset of vitiligo. I am using PCR followed by restriction digests and DNA sequencing to identify the variants in each family member. Evaluation of co-segregation of gene variants with occurrence of vitiligo in these families will provide a test of whether TYRP1 is a vitiligo susceptibility gene. ( en )
General Note:
Research authors: Catherine Rayburn, Hua Li PhD, Margaret Wallace PhD - University of Florida
General Note:
Faculty Mentor: Vitiligo is disease that occurs when the immune system attacks the melanocytes in the skin, causing loss of pigment ("white" spots). The main areas affected by vitiligo are the hands, knees, feet, elbows, mouth and eyes. There are no cures for the disease, just light therapies that must be maintained to see results, and are rarely completely effective. Vitiligo has a profound effect on the psychosocial aspects of affected children and adults. Our lab is trying to identify susceptibility genes, as vitiligo can run in families. Tyrosinase-related protein 1 (TYRP1) is an enzyme involved in melanin synthesis, and so its gene is a logical vitiligo candidate. For my research project, I am genotyping three single-nucleotide polymorphisms in TYRP1 (rs 2733832, rs 2762462, and rs 1408799) in affected families to look for an association between these variants and the onset of vitiligo. I am using PCR followed by restriction digests and DNA sequencing to identify the variants in each family member. Evaluation of co-segregation of gene variants with occurrence of vitiligo in these families will provide a test of whether TYRP1 is a vitiligo susceptibility gene. - Center for Undergraduate Research,

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University of Florida
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Copyright Catherine Rayburn. Permission granted to University of Florida to digitize and display this item for non-profit research and educational purposes. Any reuse of this item in excess of fair use or other copyright exemptions requires permission of the copyright holder.

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Family based analysis of TYRP1 gene polymorphisms in vitiligo Catherine Rayburn 1 Hua Li PhD 1 Margaret R. Wallace PhD 1,2 1 Department of Molecular Genetics and Microbiology, 2 UF Genetics Institute, University of Florida, Gainesville, FL Conclusions Introduction Results Vitiligo occurs when the immune system attacks melanocytes in the skin, causing loss of pigment ("white" spots). The main areas affected are the hands, knees, feet, elbows, mouth and eyes. There is no cure, just light therapy that must be maintained and is rarely completely effective. Vitiligo has profound psychosocial effects, but minimal physical problems. Our lab is working to identify susceptibility genes, based on the observation that vitiligo can run in families. Tyrosinase related protein 1 (TYRP1 ), an enzyme involved in melanin synthesis, is a candidate vitiligo gene. This project involves genotyping three single nucleotide polymorphisms (SNPs) in TYRP1 (rs 2733832, rs 2762462, and rs 1408799) in affected families to look for co segregation of one allele with the presence of vitiligo. This will provides evidence about whether TYRP1may be a vitiligo susceptibility gene. Methods PCR primers were designed to amplify fragments containing SNPs rs2733832 rs2762462 and rs1408799. After PCR amplification, Sanger s equencing of the PCR products is used to genotype SNPs rs2733832 & rs2762462. For rs1408799 a restriction enzyme digest will be used for genotyping. DNA samples from seven families with vitiligo are being genotyped for all three SNPs. Figure 1. Photo of quality control agarose gel electrophoresis checking PCR products from some family DNAs (lanes 3 11). Lane 1 shows the molecular weight ladder. Lane 2 shows the negative control. PCR products that pass quality control are subjected to genotyping. Figure 2. Sequencing chromatograms from rs2733832 for three members of family 107. The arrow indicates the polymorphic base. The top line shows a CC homozygote, the 2 nd line shows a homozygote for the T allele (TT), and the bottom line shows a CT heterozygote. These families have been genotyped for rs2733832, with rs2762462 and rs 1408799 still in progress. After all three polymorphisms have been genotyped, genotypes will be placed on the pedigrees and evaluated for whether there are any alleles or haplotypes that are segregating with vitiligo in one or more families. This will evaluate TYRP1 as a potential vitiligo susceptibility gene. Figure 3. Pedigrees of four of the families under study. Blue filled symbols represent individuals who have vitiligo, unfilled is unaffected. Symbols with a number indicate those for whom we have DNA. The genotypes observed are for rs2733832.