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Study Study Study!!! > Heredity Test 4 > Flashcards

Heredity Test 4 Flashcards

1
Q

What is a population?

A

an interbreeding group of the same species in a given geographical area

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2
Q

Gene Pool

A

collection of all alleles in a population

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3
Q

population genetics

A

the study of the genetics of a population and how alleles vary over time

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4
Q

gene flow

A

the movement of alleles between populations due to migration and mating.

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5
Q

Microevolution

A

refers to small genetic changes that alter allele frequencies within a population’s gene pool, occurring over short periods of time

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6
Q

macroevolution

A

speciation over longs periods of time, where accumulated microevolutionary changes result in populations that can no longer produce fertile offspring with each other, leading to new species

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7
Q

Hardy-Weinberg Equilibrium

A
  • uses equations to calculate allele and genotype frequencies in a population
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8
Q

5 factors that can violate the Hardy-Weinberg Equilibrium

A

1.) Non-random mating
2.) Mutations
3.) Natural selection
4.) Genetic drift (especially in small populations)
5.) Gene Flow (immigration/emigration)

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9
Q

HW and DNA Profiling

A
  • helps calculate the likelihood of specific genetic profiles appearing in a population
  • provides a baseline for comparing observed frequencies to those expected under equilibrium
  • aiding in forensic and population studies
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10
Q

STRs in DNA profiling

A
  • short tandem repeats
  • highly variable making them more effective for distinguishing between profiles
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11
Q

FBI CODIS Database and Probabilities

A
  • CODIS uses STR profiles to match DNA samples
  • probability matches are calculated using Hardy-Weinberg principles
  • comparing observed STR allele frequencies with population-specific days to estimate the likelihood of a match
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12
Q

Membership in the same population and relatedness

A

-determine if individuals are a part of the same population
-analyze their genome sequences or allele frequencies
-related individuals often share regions of similarity called “identical by decent”

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13
Q

Runs of Homozygosity (ROH)

A

long stretches of homozygous DNA observed in offspring related individuals or populations with high levels of interbreeding. These stretches indicate reduced genetic diversity

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14
Q

Hardy-Weinberg disruption: Non-random mating

A

preference for certain traits or interbreeding increases homozygosity and disrupts equilibrium

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15
Q

Hardy-Weinberg disruption: Mutation

A

introduces new alleles, altering allele frequencies over time

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16
Q

Hardy-Weinberg disruption: Gene flow

A

migration introduces new alleles or changes their distribution across populations

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17
Q

Hardy-Weinberg disruption: Genetic drift

A

random changes, especially in small population, can lead to significant shifts in allele frequencies

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18
Q

Founder Effect

A

a small group establishes a new population, resulting in a limited gene pool

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19
Q

Population Bottleneck

A

A drastic reduction in population size reduces genetic variation

20
Q

Hardy-Weinberg disruption: Natural selection

A

differential survival and reproduction based on phenotype can lead to an increase or decrease in certain alleles

21
Q

Eugenics

A
  • meaning “good in birth”, aimed to promote “desirable traits” while reducing “undesirable” ones
  • historically led to forced sterilizations, genocidal events linked to perceived genetic “purity” ideals
  • modern implications include ethical concerns in genetics
22
Q

Sanger Sequencing

A
  • developed in the 1970s
  • used the basic principles of DNA replication but introduces modified nucleotides called dideoxynuucleotide triphosphates (ddTP)
  • ddTTP lack the 3’ hydroxyl group, causing DNA replication to terminate whenever they are incorporated
    -The resulting fragments of varying lengths are then analyzed to determine the DNA sequences
23
Q

Map based (public) sequencing projects

A
  • conducted by the international human genome sequencing project
  • involves creating a detailed molecular marker map
  • fragments of DNA are mapped to specific chromosomes to establish order before sequencing
24
Q

Shotgun (private) sequencing projects

A
  • conducted by Celera Genomics
  • Fragments of the entire genome were sequenced randomly and then assembled using computation methods
  • faster, less expensive – as it relied on robotics, supercomputers, and public data
25
Q

Insights of the Human Genome Projects

A
  • the human genome contains ~20,000 genes, fewer than expected
  • only ~1.5% of the genome codes for proteins; the rest includes non-coding RNA, viral DNA, and repetitive sequences
  • many non-coding sequences perform regulatory or other essential functions
26
Q

Current human genome sequencing projects

A

current projects aim to:
- sequence genomes from diverse populations to improve health outcomes globally
- develop databases of genetic variants for personalized medicine and disease research

27
Q

Next-Generation sequencing (NGS) and its advantages

A
  • high throughput sequencing is faster and cheaper than Sanger sequencing
  • Sanger sequencing ~$500 per megabase
  • NGS can produce~$0.50 per megabase
  • NGS process more data in a single run - sequencing the entire genome in under $1,000
28
Q

Whole genome sequencing

A
  • captures the entire genome, including non-coding region
29
Q

Exome sequencing

A
  • focuses on the ~%1.5 of the genome that codes for proteins
  • makes it less expensive
  • may potentially miss regulatory regions and non-coding variations
30
Q

Impact of personalized medicine

A
  • improve diagnostic precision
  • tailor treatments to an individual’s genetic makeup, such as using pharmacogenomic for drug response predictions
  • enhance preventative care by identifying genetic risks for disease
31
Q

Ethical, legal, and social implications (ELSI) of personalized genome sequencing

A
  • privacy: concerns about genetic data being misused or accessed without consent
  • discrimination: risks of genetic information being used to discriminate in employment or insurance decisions, despite protections like the Genetic Information Nondiscrimination Act (GINA 2008)
  • Interpretation accuracy: the risk of providing genetic results to individuals without ensuring they can be interpreted responsibly
  • access inequalities: potential disparities in who can afford or access genomic technologies
32
Q

Beery Twins

A
  • fraternal twins initially misdiagnosed with CP but later identified with dopa-responsive dystonia (DRD)
  • genome sequencing helped pinpoint the genetic mutations responsible for DRD
  • leaded to appropriate treatment and improved health outcomes
33
Q

Jill Viles

A
  • Diagnosed with a rare genetic disorder (lipodystrophy) using genomic data
  • her case highlights the power of genome sequencing to solve medical mysteries and guide tailored treatments
34
Q

Privacy and Healthcare protections related to genome sequencing

A
  • genetic information nondiscrimination act (GINA)
  • prohibits health insurance companies from using genetic information to determine coverage or premiums
  • prevents employers from using genetic data in hiring or employment decisions
  • Limitation: does not cover life, disability, or long-term care insurance
  • patient protection and Affordable Care Act
  • prevents exclusion of coverage for pre-existing conditions
  • regulates premium adjustments based on non-genetic factors like age or tobacco use
35
Q

Genetics and Brain Development

A
  • genetics significantly influence brain and neuron development
  • guides processes such as synaptic formation, pruning, and plasticity
  • variations in genetic expression or mutations can lead to differences in neurodevelopment, impacting behaviors and cognitive functions
36
Q

Disorder

A
  • refers to the condition where the body or behavior functions abnormally
  • symptoms may vary qualitatively and are often harder to quantify (ex. depression)
  • used in genetics and behavior to reflect the complex, multifactorial nature of many conditions
37
Q

Disease

A
  • typically implies a diagnosable condition caused by a specific pathogen or physiological malfunction
38
Q

Necessity of sleep

A
  • sleep is critical for brain plasticity, memory processing metabolic repair, and immune regulation
39
Q

Circadian Rhythm

A
  • regulated by the suprachiasmatic nucleus (SCN) and pineal gland
  • controls sleep and wake cycles
40
Q

Effects of sleep disorders

A

Disorders that affect sleep quality or quantity can disrupt health, cognition and mood

41
Q

Narcolepsy

A
  • condition marked by excessive daytime sleepiness, sleep paralysis, and in rare cases, cataplexy
  • linked to a reduction in orexin-producing neurons, possibly due to autoimmune mechanisms
  • genetic associations include variations in the HLA gene
42
Q

Sleep Phase Disorders

A
  • involve shifts in circadian rhythms, leading to sleep patterns misaligned with societal norms, such as advanced or delayed sleep patterns (waking up earlier than “normal” or later)
43
Q

Depression

A
  • Symptoms: persistent sadness, loss of interest, fatigue, and impaired concentration
  • Types: Major Depressive Disorder (most common), Persistent Depressive Disorder, PMDD, SAD, etc.
  • Treatments: SSRI (Selective Serotonin Reuptake Inhibitors) - increase serotonin availability, improving mood regulation
44
Q

Bipolar Disorder

A
  • Symptoms: alternating manic and depressive episodes
  • Genetics: highly heritable but complex, involving interactions of hundred of genes
45
Q

Addiction

A
  • Mechanisms: Drugs mimic endogenous chemicals, binding to receptors and altering neurotransmitter release, such as dopamine. Prolonged use desensitizes receptors, causing withdrawal symptoms upon cessation
  • genetic contribution: heritability estimates vary (~50% for nicotine addiction). Specific variants, such as SNP rs16969968 in the CHRNA5 gene, are linked to increased susceptibility

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