MOLECULAR STUDY HIGH SPORTS PERFORMANCE RELATED POLYMORPHISMS (R577X gen ACTN3, C34T gen AMPD1, I/D gen ECA, -9/+9 gen BDKRB2, 985+185/1170 gen CK-M), SNP GENOTYPING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4207

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Real-Time PCR
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
The phenomenon of human physical performance in sports has always been of interest to specialists in sport medicine and physiologists. The variability of biological and mechanical responses of different systems, in elite athletes of each specific modality, which allows the study of the genetics field and the identification of what is known as "candidate genes". To date, it is known that the human genetic map has arround of 170 existing gene variants and genetic markers that are involved with physical performance and a healthy physical condition. Alpha actin-3 (ACTN3) is specific of muscular fibers that undergoes to fast contraction responsible of the contractile force at high speed. R577X is a mutation identified in the gene, and produces ACTN3 deficiency. A nonsense mutation in the gene type of AMP deaminase (AMPD1, C34T polymorphism) indirectly causes a depletion in ATP levels. In situations fo intense contractiion activity, this mutation, is associated with the inhibition of contractile response, and is a characteristic component of muscular fatigue. The I / D polymorphism in the angiotensin converting enzyme (ACE) is related to the vasoconstriction precess, and the I allele (associated with low concentrations of ECA) is more frequent in high resistance athletes, while the D allele (associated with high ACE concentrations) is more common in athletes that practice sports of high intensity and muscular strength. This enzyme plays an important role in bradicidin metabolism, regulating ventricular hypertrophic response. A polymorphism in the bradicidin receptor gene (BDKRB2 consisting of the presence or absence of a 9 base pairs segment. The -9bp variant is associated with high transcriptional activity of the gene, and therefore influences ventricular hypertrophy, associated with a increased resistance in sports practice. The enzyme creatine kinase-M (CK-M) plays a predominant role in glycolytic muscle cells and limits aerobic metabolism. The 985-185/1170 polymorphism in CK-M gene seems to be related high contractile activity response in anaerobic conditions, and therefore with high resistance sports.
Links:
OMIM Entry - + 102574 - ACTININ, ALPHA-3; ACTN3
OMIM Entry - + 102770 - ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1
OMIM Entry - + 106180 - ANGIOTENSIN I-CONVERTING ENZYME; ACE
OMIM Entry - - 113503 - BRADYKININ RECEPTOR B2; BDKRB2
OMIM Entry - - 123310 - CREATINE KINASE, MUSCLE TYPE; CKM

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