Genetics of Polygenic Traits and Sports Performance
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Questions and Answers

Polygenetic traits are determined by multiple ______ and do not follow Mendelian inheritance.

genes

ACE encodes angiotensin-converting enzyme and is involved in the ______ and Bradykinin pathways.

Renin Angiotensin

XX homozygotes are deficient in ______ whereas RR homozygotes have a greater number of fast twitch fibres.

ACTN3

The Kalenjin tribe is known for their ______ build, characterized by less mass for their height and long legs.

<p>Nilotic</p> Signup and view all the answers

Factors such as travel difficulties and historical ______ have impacted the sports culture in certain populations.

<p>discrimination</p> Signup and view all the answers

Many polygenetic traits are influenced by the ______, making them multifactorial.

<p>environment</p> Signup and view all the answers

In genetic association studies, elite athletes are often compared to the general ______.

<p>population</p> Signup and view all the answers

ACTN3 is primarily expressed in ______ muscle and functions as a structural component.

<p>skeletal</p> Signup and view all the answers

The Kalenjin people have exceptionally long ______ tendons, which contribute to their running ability.

<p>Achilles</p> Signup and view all the answers

Historical discrimination and civil war have affected the sports culture and ______ in certain populations.

<p>infrastructure</p> Signup and view all the answers

The ACE gene has 26 ______ and encodes angiotensin-converting enzyme (ACE).

<p>exons</p> Signup and view all the answers

The ACTN3 gene encodes ______, a protein primarily expressed in skeletal muscle.

<p>alpha-actin-3</p> Signup and view all the answers

The ACE gene contains an ALU ______ element, a segment of DNA that can move around the genome.

<p>transposable</p> Signup and view all the answers

Individuals homozygous for the XX genotype are deficient in ______, affecting their fast-twitch muscle performance.

<p>ACTN3</p> Signup and view all the answers

ACE is involved in the renin-angiotensin and ______ pathways, which help regulate blood pressure.

<p>bradykinin</p> Signup and view all the answers

The ACE gene is involved in regulating ______ levels in the body.

<p>blood pressure</p> Signup and view all the answers

The ACTN3 gene encodes a protein primarily expressed in ______ muscle.

<p>skeletal</p> Signup and view all the answers

Homozygous individuals for the ______ genotype may have an advantage in power sports due to a greater number of fast-twitch muscle fibers.

<p>RR</p> Signup and view all the answers

What term describes traits that are determined by multiple genes and do not follow Mendelian inheritance?

<p>Polygenic traits</p> Signup and view all the answers

What is the nature of the genetic factors that contribute to sports performance?

<p>Complex polygenic multifactorial traits</p> Signup and view all the answers

Which group is known for their physiological characteristics that enhance distance running ability?

<p>Kalenjin Tribe</p> Signup and view all the answers

Which trait is NOT typically considered a polygenic trait influenced by genetics and environment?

<p>Blood type</p> Signup and view all the answers

Which factors are considered to influence sport performance?

<p>Genetic potential and access to equipment</p> Signup and view all the answers

What is the primary focus of a Genome Wide Association Study (GWAS)?

<p>To analyze the entire genome without a specific hypothesis</p> Signup and view all the answers

Which of the following describes a characteristic of endurance athletes in genetic studies?

<p>They exhibit larger cardiac sizes compared to power athletes</p> Signup and view all the answers

What type of polymorphism is typically analyzed in Candidate Gene Genotyping Methods?

<p>Restriction Fragment Length Polymorphism (RFLP)</p> Signup and view all the answers

What measurement is often associated with power athletes in genetic studies?

<p>A greater number of fast-twitch muscle fibers</p> Signup and view all the answers

Which of the following is a method used in GWAS genotyping?

<p>Microarray technology</p> Signup and view all the answers

What type of genetic variant is described as being observed in at least 1% of the population?

<p>Single Nucleotide Polymorphism (SNP)</p> Signup and view all the answers

Which type of gene study is primarily driven by a specific biological hypothesis?

<p>Candidate Gene Study</p> Signup and view all the answers

What physiological characteristic of the Kalenjin tribe contributes to increased running economy?

<p>Less mass for their height</p> Signup and view all the answers

Which of the following factors is NOT mentioned as a contributing factor to the Kalenjin tribe's success in running?

<p>Socioeconomic status</p> Signup and view all the answers

Which group was significantly impacted by historical discrimination and civil war, leading to a lack of sports culture?

<p>Lost Boys of South Sudan</p> Signup and view all the answers

How does the average thickness of the lower legs of the Kalenjin tribe compare to control populations?

<p>It is 15-17% less than control populations</p> Signup and view all the answers

Which aspect of the Kalenjin people is linked to their exceptional running ability?

<p>Longer legs and slender limbs</p> Signup and view all the answers

What is one reason for the disparity in running success between the Kalenjin tribe and South Sudanese runners?

<p>Access to sports culture and infrastructure</p> Signup and view all the answers

What genetic factor has been studied for its influence on sprinting performance among elite athletes?

<p>ACTN3 genotype</p> Signup and view all the answers

Which of the following attributes is NOT a characteristic of the Kalenjin tribe's Nilotic build?

<p>Wider shoulders</p> Signup and view all the answers

What is the primary function of the ACTN3 protein in muscle physiology?

<p>Serves as a structural component in skeletal muscle</p> Signup and view all the answers

Which genotype is associated with a higher frequency of type II muscle fibers?

<p>RR homozygotes</p> Signup and view all the answers

What does the ACE I/D polymorphism influence in athletic performance?

<p>Endurance efficiency</p> Signup and view all the answers

What characteristic is commonly associated with individuals who are XX homozygotes for the ACTN3 genotype?

<p>Deficiency in ACTN3</p> Signup and view all the answers

In the context of genotype studies, what distinguishes Candidate Gene studies from Genome Wide Association Studies (GWAS)?

<p>Candidate Gene studies are hypothesis-driven while GWAS is hypothesis-free</p> Signup and view all the answers

Which allele in the ACE gene is linked with higher muscle efficiency in endurance athletes?

<p>I allele</p> Signup and view all the answers

What does the ACTN3 p.Arg577Ter polymorphism result in for the muscle fiber type distribution in athletes?

<p>Reduced Type II fibers in elite sprint athletes</p> Signup and view all the answers

The ACE gene polymorphism is most likely to affect which aspect of physical performance?

<p>Muscle power output</p> Signup and view all the answers

What type of trait is sport performance classified as due to its dependence on multiple genes and environmental factors?

<p>Polygenic multifactorial trait</p> Signup and view all the answers

Which gene is primarily studied for its role in muscle performance and is associated with the distribution of muscle fiber types?

<p>ACTN3</p> Signup and view all the answers

Which physiological characteristic of the Kalenjin tribe contributes to their superior distance running ability?

<p>Longer lower legs</p> Signup and view all the answers

In genetic research, what is the primary challenge in identifying genetic variants associated with success in specific sports?

<p>The complex interaction between multiple genes makes it difficult.</p> Signup and view all the answers

What major advantage is associated with the I allele of the ACE I/D polymorphism in athletes?

<p>Enhanced endurance performance</p> Signup and view all the answers

Which gene variant is associated with a higher frequency of type II muscle fibers in athletes?

<p>ACTN3 RR genotype</p> Signup and view all the answers

What distinguishes a Genome Wide Association Study (GWAS) from Candidate Gene studies?

<p>GWAS examines multiple genes simultaneously</p> Signup and view all the answers

What is the role of the ACTN3 protein in muscular physiology?

<p>Acting as a binding protein in fast twitch muscle fibers</p> Signup and view all the answers

Which polymorphism is specifically linked to elite performance in sprint athletes?

<p>ACTN3 p.Arg577Ter</p> Signup and view all the answers

What specific impact does the ACTN3 577XX genotype have on athletic performance?

<p>Results in a deficiency of fast-twitch fibers</p> Signup and view all the answers

In candidate gene studies, what is the primary focus during genotyping?

<p>Identification of a single candidate gene based on hypotheses</p> Signup and view all the answers

Which of the following traits is likely associated with athletes who carry the D allele of the ACE gene?

<p>Higher levels of angiotensin II in muscle tissue</p> Signup and view all the answers

Which of the following traits is most commonly associated with endurance athletes?

<p>Higher VO2max</p> Signup and view all the answers

What type of genetic study compares elite athletes to the general population?

<p>Case-control studies</p> Signup and view all the answers

Which method is used to analyze Single Nucleotide Polymorphisms (SNPs) in genetic research?

<p>Whole Exome Sequencing (WES)</p> Signup and view all the answers

In a Genome Wide Association Study (GWAS), which approach is utilized?

<p>Hypothesis-free analysis</p> Signup and view all the answers

Which physiological attribute is often used to distinguish between endurance and power athletes in genetic studies?

<p>Cardiac size differences</p> Signup and view all the answers

Which of the following techniques is NOT commonly used for Candidate Gene Genotyping methods?

<p>Microarray analysis</p> Signup and view all the answers

What role do Single Nucleotide Polymorphisms (SNPs) play in genetic studies?

<p>They inform on allele frequency variations related to traits.</p> Signup and view all the answers

Which environmental factor is linked to sport performance?

<p>Access to equipment</p> Signup and view all the answers

How does the average volume of the lower legs in the Kalenjin tribe compare to control populations?

<p>It is 15-17% less.</p> Signup and view all the answers

Which physiological characteristic is a result of long Achilles tendons in the Kalenjin tribe?

<p>Enhanced power generation due to elasticity.</p> Signup and view all the answers

What environmental factor has NOT been cited as a reason for the running success of the Kalenjin tribe?

<p>Exposure to extreme heat.</p> Signup and view all the answers

Which of the following factors is described as significantly impacting the nurture aspect for South Sudanese athletes?

<p>Historical discrimination.</p> Signup and view all the answers

What is one reason cited for the disproportionate representation of Kalenjin runners in global middle-distance and long-distance events?

<p>Their small body mass relative to their height.</p> Signup and view all the answers

In terms of genetic traits, what is a characteristic difference between the Kalenjin tribe and South Sudanese runners?

<p>Kalenjin possess unique variants related to running efficiency.</p> Signup and view all the answers

What physiological adaptation is NOT commonly observed in elite distance runners, particularly in the Kalenjin tribe?

<p>Increased lower leg muscle mass.</p> Signup and view all the answers

Which of the following traits do South Sudanese runners generally lack compared to the Kalenjin tribe?

<p>Strong cultural emphasis on running.</p> Signup and view all the answers

Which statement best describes polygenic traits in sports performance?

<p>Determined by multiple genes</p> Signup and view all the answers

What is one challenging aspect of identifying genetic variants related to sports success?

<p>Broad variation in defining athletic performance</p> Signup and view all the answers

What physiological characteristic of the Kalenjin tribe enhances their distance running ability?

<p>Longer tendons</p> Signup and view all the answers

How is sport performance classified in terms of its genetic and environmental influences?

<p>Complex polygenic multifactorial trait</p> Signup and view all the answers

What is the primary focus of Candidate Gene studies?

<p>Testing a specific biological hypothesis</p> Signup and view all the answers

How does the I allele of the ACE I/D polymorphism affect muscle performance?

<p>Is associated with lower ACE activity</p> Signup and view all the answers

Which muscle fiber type is primarily associated with the ACTN3 protein?

<p>Type II fibers</p> Signup and view all the answers

What polymorphism is linked with performance differences in elite athletes regarding ACTN3?

<p>p.Arg577Ter</p> Signup and view all the answers

Which statement describes a common finding in GWAS studies?

<p>They analyze genetic variants across the genome</p> Signup and view all the answers

What characteristic is commonly found in RR homozygotes of ACTN3?

<p>Greater numbers of Type II fibers</p> Signup and view all the answers

What is the potential influence of the D allele in ACE genotype on athletic performance?

<p>Associated with higher ACE activity and strength</p> Signup and view all the answers

Which genetic factor is identified as a significant influence on sprinting performance among athletes?

<p>ACTN3 genotype</p> Signup and view all the answers

What is primarily measured in endurance athletes in genetic association studies?

<p>Muscle fiber type distribution</p> Signup and view all the answers

Which method is commonly used in Candidate Gene Genotyping?

<p>Sanger Sequencing</p> Signup and view all the answers

Which type of genetic study is considered hypothesis-driven?

<p>Genotype-Phenotype Association Studies</p> Signup and view all the answers

What is a Single Nucleotide Polymorphism (SNP)?

<p>An allele observed in at least 1% of the population</p> Signup and view all the answers

What is typically examined in a Genome Wide Association Study (GWAS)?

<p>Broad genetic variations across the genome</p> Signup and view all the answers

What factor does NOT influence sport performance?

<p>Personality type</p> Signup and view all the answers

Which physical characteristic is often correlated with performance in sports?

<p>Leg length</p> Signup and view all the answers

Which of the following is a component of cardiovascular fitness?

<p>Endurance capacity</p> Signup and view all the answers

Which physiological characteristic of the Kalenjin tribe is known to enhance running economy?

<p>Long Achilles tendons</p> Signup and view all the answers

What is a notable physical characteristic of the Kalenjin people compared to control populations?

<p>Less mass for their height</p> Signup and view all the answers

Which factor is NOT mentioned as a contributor to the Kalenjin tribe's success in running?

<p>Genetic similarity to other tribes</p> Signup and view all the answers

What aspect significantly differentiates the Kalenjin tribe from the South Sudanese in the context of athletic success?

<p>Environmental opportunities</p> Signup and view all the answers

Which of the following best describes the body structure typical of the Kalenjin tribe?

<p>Tall stature with shorter torsos</p> Signup and view all the answers

Which challenge has predominantly impacted the South Sudanese people's participation in sports?

<p>Civil war and travel difficulties</p> Signup and view all the answers

What is a genetic variant that influences performance in elite sprinters?

<p>ACE I/D variant</p> Signup and view all the answers

Study Notes

Polygenic Traits

  • Polygenic traits are determined by multiple genes and do not follow Mendelian inheritance patterns.
  • Many polygenic traits are also influenced by environmental factors, making them multifactorial.
  • These traits often exhibit a wide range of phenotypes, like height and weight.

Genetic Association Studies in Sports Performance

  • Genetic association studies investigate the link between genes and athletic performance.
  • Researchers use case-control studies comparing elite athletes with the general population.
  • Specific comparisons are made between endurance athletes and power athletes.
  • Quantitative measures used in these studies include: VO2 max, strength measures, percentage of fast-twitch muscle fibers, cardiac size, and lactate levels.

ACE Gene

  • The ACE gene has 26 exons and encodes angiotensin-converting enzyme (ACE).
  • The ACE gene contains an ALU transposable element, a segment of DNA that can move around the genome.
  • ACE is involved in the renin-angiotensin and bradykinin pathways, which regulate blood pressure.
  • The ACE I/D alleles refer to the specific genetic variants found in the ACE gene, where 'I' denotes the insertion allele and 'D' denotes the deletion allele. These alleles contribute to variations in the activity of angiotensin-converting enzyme and have been associated with differences in athletic performance, particularly in endurance versus strength-related activities. The distribution of these alleles varies among different populations and may influence an individual's response to exercise training and predisposition to certain cardiovascular conditions.
  • The ACE I allele is believed to enhance endurance performance in runners by promoting more efficient oxygen utilization and improving cardiovascular efficiency. Research indicates that the ACE I allele is associated with lower levels of angiotensin-converting enzyme activity, which can benefit endurance athletes.
  • The ACE D allele has been associated with increased strength and sprint performance but may be linked to lower endurance capabilities in runners. ACE D allele is associated with higher levels of angiotensin-converting enzyme activity, which can influence cardiovascular function.

ACTN3 Gene

  • The ACTN3 gene encodes alpha-actin-3, a protein primarily expressed in skeletal muscle.
  • ACTN3 acts as a structural component, crucial for fast-twitch muscle fibers.
  • Individuals homozygous for the XX genotype are deficient in ACTN3, while RR homozygotes have a greater number of fast-twitch muscle fibers, potentially conferring an advantage in power sports.
  • The p.Arg577Ter mutation in the ACTN3 gene results in a premature stop codon, leading to the absence of functional alpha-actin-3 protein in muscle fibers. This variant is particularly relevant to athletic performance, as individuals carrying this mutation tend to have reduced power and sprint capabilities due to the lower quantity of fast-twitch muscle fibers. In contrast, those without this variant may exhibit enhanced strength and agility in high-intensity activities.

Kalenjin Tribe Adaptations

  • The Kalenjin tribe exhibits unique physical characteristics potentially linked to running performance.
  • They have lower leg volume and thickness compared to other populations.
  • Their Achilles tendons are exceptionally long, improving power generation.
  • Their slender build (nilotic) with longer legs, shorter torsos, and less mass provides a more efficient running form.

South Sudanese vs. Kalenjin

  • Both South Sudanese and Kalenjin share the Nilotic build, suggesting a genetic predisposition to running ability
  • Despite similar genetic traits, differences exist in running performance.
  • Environmental factors like travel difficulties, historical discrimination, civil war, and lack of sports culture and infrastructure are contributing factors to the disparity.

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Genetics in Sport (AP) PDF

Description

Explore the fascinating world of polygenic traits, influenced by multiple genes and environmental factors, and their implications on phenotypes like height and weight. Delve into genetic association studies that link these traits to athletic performance, comparing elite athletes with the general population. Understand the role of the ACE gene and its significance in genetics.

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