Genotyping of the Porcine Ryanodine Receptor 1 (RYR1) and Estrogen Receptor 1 (ESR1) Genes by High Resolution Melting (HRM) Approach

다국어 초록 (Multilingual Abstract)

During the last decade, DNA mutations in the porcine ryanodine receptor 1 gene (RYR1, C1843T) and the estrogen receptor 1 gene (ESR1, T1665G), have been widely used in marker-assisted selection (MAS) for the pig industry. These 2 well-characterized SNPs in RYR1 and ESR1 are responsible for porcine stress syndrome (PSS)and litter size, respectively. Here, we describe a reliable,high-efficiency method for the genotyping of these 2 genes using the high-resolution melting (HRM) method. The HRM approach exhibited high-accuracy and repeatability,comparable with the classic PCR-restriction fragment length polymorphism (PCR-RFLP) approach, and is potentially suitable for large-scale genotyping in commercial pig farms.

참고문헌 (Reference)

1 Chen, K. F., "The genetic effect of estrogen receptor (ESR) on litter size traits in pig" 27 : 853-857, 2000

2 Rothschild, M., "The estrogen receptor locus is associated with a major gene influencing litter size in pigs" 93 : 201-205, 1996

3 Wu, Z. F., "Study on the association between estrogen receptor gene (ESR) and reproduction traits in Landrace pigs" 33 : 711-716, 2006

4 Guardia, M., "Risk assessment of skin damage due to preslaughter conditions and RYR1 gene in pigs" 81 : 745-751, 2009

5 Tavtigian, S. V., "Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer" 85 : 427-446, 2009

6 Rothschild, M., "Pvu II polymorphisms at the porcine oestrogen receptor locus (ESR)" 22 : 448-448, 1991

7 Fujii, J., "Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia" 253 : 448-451, 1991

8 Temesvari, M., "High-resolution melting curve analysis to establish CYP2C19*2 single nucleotide polymorphism: Comparison with hydrolysis SNP analysis" 25 : 130-133, 2011

9 Hahn, C. N., "Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia" 43 : 1012-1017, 2011

10 Short, T. H., "Effect of the estrogen receptor locus on reproduction and production traits in four commercial pig lines" 75 : 3138-3142, 1997

11 Otsu, K., "Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families" 11 : 744-750, 1991

12 Reiss, T., "Consequences, opportunities and challenges of modern biotechnology for Europe (Bio4EU)–Task 2" European Techno-Economic Policy Support Network (ETEPS Net) 2007

13 Pinto, P., "Comparison of methodologies for KRAS mutation detection in metastatic colorectal cancer" 204 : 439-446, 2011

14 Aguirre-Lamban, J., "Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene" 51 : 2615-2619, 2010

15 Tan, M. H., "A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands" 88 : 42-56, 2011