Browsing by Author "Smalley Meylan, Susan Valerie"
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- ItemAPOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family(2012) Dussaillant, Catalina; Serrano Larrea, Valentina; Maiz Gurruchaga, Manuel Alberto; Eyheramendy Duerr, Susana; Cataldo Bascuñan, Luis Rodrigo; Smalley Meylan, Susan Valerie; Rigotti Rivera, Attilio; Rubio, Lorena.; Lagos Arévalo, Carlos Fernando; Santos Martín, José LuisAbstract Background Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis) were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. Methods We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel). Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. Results A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter) found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. Conclusion The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.
- ItemAssociation of RNASEL and 8q24 variants with the presence and aggressiveness of Hereditary and Sporadic Prostate Cancer in a Hispanic population(2014) San Francisco Reyes, Ignacio Felipe; Rojas, Pablo A.; Torres Estay, Verónica Alejandra; Smalley Meylan, Susan Valerie; Cerda Infante, Javier; Montecinos Acuña, Viviana; Hurtado Nazal, Claudia; Godoy Sánchez, Alejandro Samuel
- ItemCopy number polymorphism of the salivary amylase gene: Implications in human nutrition research(2012) Santos Martín, José Luis; Saus, E.; Smalley Meylan, Susan Valerie; Cataldo Bascuñan, Luis Rodrigo; Alberti Reus, Gigliola Loredana; Parada, J.; Gratacòs, M.; Estivill, X.The salivary alpha-amylase is a calcium-binding enzyme that initiates starch digestion in the oral cavity. The alpha-amylase genes are located in a cluster on the chromosome that includes salivary amylase genes (AMY1), two pancreatic alpha-amylase genes (AMY2A and AMY2B) and a related pseudogene. The AMY1 genes show extensive copy number variation which is directly proportional to the salivary alpha-amylase content in saliva. The alpha-amylase amount in saliva is also influenced by other factors, such as hydration status, psychosocial stress level, and short-term dietary habits. It has been shown that the average copy number of AMY1 gene is higher in populations that evolved under high-starch diets versus low-starch diets, reflecting an intense positive selection imposed by diet on amylase copy number during evolution. In this context, a number of different aspects can be considered in evaluating the possible impact of copy number variation of the AMY1 gene on nutrition research, such as issues related to human diet gene evolution, action on starch digestion, effect on glycemic response after starch consumption, modulation of the action of alpha-amylases inhibitors, effect on taste perception and satiety, influence on psychosocial stress and relation to oral health. Copyright (C) 2012 S. Karger AG, Basel
- ItemInterleuquina-6 en la regulación de la ingesta energética post-ejercicio físico(2013) Santos Martín, José Luis; Almada, C.; Smalley Meylan, Susan Valerie
- ItemNovel splice-affecting variants in CYP27A1 gene in two chilean patients with cerebrotendinous xanthomatosis(2015) Smalley Meylan, Susan Valerie; Preiss, Yudith; Suazo, José; Vega, Javier Andrés; Angellotti, Isidora; Lagos F., Carlos; Rivera, Enzo; Kleinsteuber, Karin; Campion, Javier; Martínez, J. Alfredo; Maíz Gurruchaga, Alberto Luis; Santos Martín, José Luis
- ItemPlasma levels of interleukin-6 and interleukin-18 after an acute physical exercise : relation with post-exercise energy intake in twins(2013) Almada, C.; Cataldo Bascuñan, Luis Rodrigo; Smalley Meylan, Susan Valerie; Díaz, E.; Serrano Reyes, Andrés; Hodgson Bunster, María Isabel; Santos Martín, José Luis
- ItemPolimorfismos genéticos de interleuquina 6 (IL6), IL6R e IL18 : asociación con componentes del síndrome metabólico en niños chilenos con obesidad(2014) Suazo, José; Smalley Meylan, Susan Valerie; Hodgson Bunster, María Isabel; Weisstaub, Gerardo; González, Andrea; Santos Martín, José Luis