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 (C)</p> Signup and view all the answers

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

<p>mRNA (C)</p> Signup and view all the answers

What triggers the end of the translation process?

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

Which aspect of molecular genetics helps understand human trait variation?

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

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

<p>Dyslexia and dyscalculia (C)</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 (B)</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 (C)</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 (A)</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 (D)</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 (D)</p> Signup and view all the answers

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

<p>Dyscalculia (D)</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 (B)</p> Signup and view all the answers

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

<p>2% (A)</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 (C)</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% (B)</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) (B)</p> Signup and view all the answers

How many bases make up the human genome?

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

Which statement correctly reflects genetic similarity among humans?

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

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

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

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

<p>2000 (B)</p> Signup and view all the answers

Flashcards

Heritability Estimation

A statistical measure of how much variation in a trait is due to genetic differences among individuals.

Molecular Genetics

The study of how genes work at the level of molecules.

DNA Structure

A double helix formed by two strands of nucleotides.

Nucleotide

The building block of DNA, consisting of a sugar, a phosphate, and a base.

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Transcription

The process of making an RNA copy of a DNA gene.

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Translation

The process of assembling a protein from an mRNA template.

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Base Pairing Rules

Adenine pairs with Thymine, and Cytosine pairs with Guanine in DNA.

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mRNA

Messenger RNA, a molecule that carries the DNA's instructions.

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Human Genome Project

International research effort to map and sequence all the DNA base pairs in the human genome.

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Genetic Diversity

Variations in the genetic makeup of individuals within a species or population.

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Single Nucleotide Polymorphism (SNP)

Most common type of genetic variation; a single base pair difference at a specific location in the genome.

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Copy Number Variation (CNV)

Variation in the number of copies of a specific DNA segment.

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Allele Frequency

Proportion of a particular allele (gene variant) in a population.

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Mutation

A permanent alteration in the DNA sequence that may disrupt gene function.

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Minor Allele Frequency (MAF)

Percentage of a less frequent gene variant (allele) within a population.

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Genotype

Combination of two alleles present at a specific locus.

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15q11.2 (BP1-BP2) CNVs and Cognitive Traits

Variations in the 15q11.2 region of chromosome 15, linked to difficulties in reading and math (dyslexia and dyscalculia).

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16p11.2 CNVs and BMI/Head Circumference

Variations in the 16p11.2 region are linked to body mass index (BMI) and head size.

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22q11.2 Deletion Syndrome

A genetic disorder caused by a missing segment of chromosome 22 affecting various genes, including those related to neurotransmitter regulation.

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Rare Recurrent CNVs and Pleiotropic Effects

Certain CNVs can lead to diverse effects, for instance, the 1q21.1 deletion syndrome is associated with schizophrenia, autism, and intellectual disability.

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Developmental Delay/Intellectual Disability Syndromes

A variety of conditions linked to specific chromosome regions (e.g. 3q29, 1q21.1) that can lead to intellectual disability or developmental delays.

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Presenilin Genes and Alzheimer's Disease

Mutations in Presenilin 1 (Chr 14) and Presenilin 2 (Chr 1) genes are implicated in some forms of Alzheimer's disease.

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ARHQ and AMHQ

Questionnaires used to detect dyslexia (reading) and dyscalculia (math).

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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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