Genetics
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Questions and Answers

What is the primary purpose of estimating heritability in genetics?

  • To identify specific gene mutations
  • To assess the role of genetic and environmental factors (correct)
  • To understand the structure of DNA
  • To determine the age of individuals
  • Which of the following components are part of a nucleotide?

  • Phosphate group (correct)
  • Amino group
  • Deoxyribose sugar (correct)
  • Cytosine triphosphate
  • What are the Watson-Crick base-pairing rules?

  • A:G, C:T
  • A:T, C:G (correct)
  • C:A, T:G
  • G:T, A:C
  • Where does transcription occur in a cell?

    <p>In the nucleus</p> Signup and view all the answers

    During translation, which molecule serves as a template for assembling amino acids into proteins?

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

    What triggers the end of the translation process?

    <p>A stop codon</p> Signup and view all the answers

    What is the role of transfer RNA (tRNA) in protein synthesis?

    <p>To transport amino acids to ribosomes</p> Signup and view all the answers

    Which aspect of molecular genetics helps understand human trait variation?

    <p>Specific genetic factors and their influence</p> Signup and view all the answers

    What cognitive traits are detected using the ARHQ and AMHQ questionnaires?

    <p>Dyslexia and dyscalculia</p> Signup and view all the answers

    Which brain structure alteration is associated with dyscalculia in 15q11.2 CNV carriers?

    <p>Grey matter alterations in anterior cingulate cortex</p> Signup and view all the answers

    What is the effect of the 16p11.2 duplication on physical traits?

    <p>Effects on BMI and head circumference</p> Signup and view all the answers

    Which of the following represents a rare recurrent CNV associated with several mental disorders?

    <p>1q21.1 Deletion Syndrome</p> Signup and view all the answers

    What is a characteristic consequence of the 22q11.2 deletion syndrome?

    <p>Missing chunk of long arm chromosome 22</p> Signup and view all the answers

    Which gene, mapped to the deleted region in 22q11.2 syndrome, is involved in neurotransmitter degradation?

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

    Which of the following is not a symptom associated with the 15q13.3 deletion?

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

    What is the significance of the zebrafish model in studying schizophrenia?

    <p>It demonstrates social behaviors and preferences</p> Signup and view all the answers

    What percentage of the human genome is made up of protein coding genes?

    <p>2%</p> Signup and view all the answers

    Which type of genetic variation occurs when the DNA sequence at a specific locus is present in more than 1% of the population?

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

    What is the minor allele frequency (MAF) threshold that defines a DNA variant as a polymorphism?

    <p>≥1%</p> Signup and view all the answers

    Which of the following is a common example of small-scale genetic variation?

    <p>Single Nucleotide Polymorphisms (SNPs)</p> Signup and view all the answers

    How many bases make up the human genome?

    <p>3 billion</p> Signup and view all the answers

    Which statement correctly reflects genetic similarity among humans?

    <p>Humans are 99.9% genetically identical.</p> Signup and view all the answers

    The study of chromosomal micro-duplications primarily contributes to understanding which aspect of genetics?

    <p>Chromosomal abnormalities</p> Signup and view all the answers

    What is the total number of alleles in the control group described?

    <p>2000</p> Signup and view all the answers

    Study Notes

    Genetics

    • Heritability Estimation: Quantitative genetic studies determine the influence of genetics and environment on traits, allowing for predictions of success in gene identification.

    • Molecular Genetic Research: Studies gene structure and function, building on quantitative genetics to identify specific genetic factors, their impact, and their influence on human traits and diseases.

    • Twin Studies: Twins provide a natural experiment to compare genetic influence (100% vs 50%) and environmental factors. Studies examine factors like sex, age, in-utero environment, and early life experiences.

    DNA Structure

    • Double Helix: DNA consists of two strands forming a double helix, each strand composed of smaller nucleotides.

    • Nucleotide Components: Each nucleotide is composed of a phosphate group, a deoxyribose sugar, and a nitrogenous base (adenine, thymine, cytosine, or guanine).

    • Base Pairing: Watson-Crick base-pairing rules dictate that adenine pairs with thymine and cytosine pairs with guanine. Hydrogen bonds form between these base pairs.

    DNA to mRNA

    • Transcription: The process of copying a DNA sequence into mRNA involves RNA polymerase binding to the DNA promoter region, unwinding the DNA, and synthesizing complementary mRNA.

    • mRNA to Protein: mRNA carries the genetic code from the nucleus to the cytoplasm, where it directs protein synthesis in ribosomes. Transfer RNA (tRNA) molecules transport specific amino acids, assembling them to form a protein.

    Genetic Variation

    • Human Genome Project: Completed in 2003, the project mapped the human genome, finding ~22,000 protein coding genes and 3.1x10^9 base pairs.

    • Genetic Variation Classifications: Different types of genetic variations exist, ranging from single-base changes (SNPs, SNVs) to larger-scale structural variations (CNVs), affecting a varying number of bases and structural arrangements.

    • Implications of Genetic Variation: Genetic variations exist between individuals, making humans unique (99.9% identical).

    • Genotype to Alleles & MAFs: Specific genotypes (e.g., TT or CT) relate to specific allele counts and frequencies.

    • Association Testing: Statistical methods used to determine if genetic variations are associated with particular traits or diseases.

    • Biological Insights from Genetic Loci: Studies investigate specific genetic loci linked to schizophrenia and other diseases.

    • Rare Recurrent CNVs: Certain large DNA variations (CNVs) may have multiple impacts on traits, which may be seen across several genes and conditions.

    • Zebrafish Model: Zebrafish models may exhibit social behavior, paralleling aspects of human social behavior and some early symptoms of schizophrenia.

    • Genetic Markers (SNPs): Variations at single base pairs within DNA, commonly found in the human population and can be used to determine genetic variations and relationships

    • Chromosomal Abnormalities: Variations in the number or arrangement of chromosomes, which can cause syndromes and various other phenotypes/traits.

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    Genetics Study Notes PDF

    Description

    Explore the foundational concepts in genetics, including heritability estimation, molecular genetic research, and twin studies. Understand the structure of DNA, its double helix formation, and the importance of nucleotide components and base pairing. This quiz covers essential principles that are crucial for studying genetics and molecular biology.

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