Complex disease & pharmacogenetics Flashcards

1
Q

What is an allele?

A

An alternative form of the gene occupying the same locus

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2
Q

What is a locus?

A

Specific position on a chromosome, whereby a gene responsible for a particular trait is located.

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3
Q

What is codominance?

A

Two different alleles of a heterozygote are both expressed in the phenotype

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4
Q

What is sex-linkage?

A

Results when genes are located on the sex chromosomes, whereas autosomal linkage is the converse

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5
Q

What is polygenic inheritance?

A

A single feature is determined by more than one interacting genes
A particular feature can significantly be influenced by environmental factors during development

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6
Q

What is a chi-squared test?

A

A statistical test to evaluate whether the observed phenotypic ratios differ significantly from the theoretical frequencies.

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7
Q

What is gene mapping?

A

A technique used to locate the specific position of a gene occupies on a chromosome

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8
Q

What is a phenotype?

A

Description of the character manifested by a gene

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9
Q

What is a genotype?

A

The genetic constitution of an individual at a particular locus

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10
Q

How many blood group allelic forms exist?

A

3, IA, IB, and IO

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11
Q

What are the mendelian traits?

A

Phenotype is controlled by a single gene, inheritance abides Mendelian principles; homozygous (identical genes); double homozygous cross breed results in single expressed phenotype and genotype within the first filial generation

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12
Q

How are Mendelian diseases studied?

A

Analyzing genetic pedigrees

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13
Q

What are the complex traits?

A

Phenotype is controlled by multiple genes, in addition to environmental influences

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14
Q

How are complex diseases studied?

A

Studied by evaluating affected individuals within a sampled population

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15
Q

What are SNPs (Genetics)?

A

Single nucleotide polymorphisms
DNA sequence variations that occur when a single nucleotide is altered; a common form of variation within the human genome.

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16
Q

What is association analysis?

A

Stratified population-based on genotype groups; identify whether the genotype can distinguish pathology of the disease, conduct a statistical tests to calculate significant difference of results.

17
Q

What are GWAS?

A

Genome-wide association studies is an observational study of a genome-wide set of genetic variations in different individuals and identifying any variant associated with a trait.

18
Q

What does a genome-wide association study require to be effective?

A

Requires large sample size, and multiple testing

False positives may occur, thus conduct an agnostic search

19
Q

How is a genome-wide association study conducted?

A

DNA samples collected from healthy individuals, and those with expressed phenotypic disease traits
DNA and sequences & genotypes are identified, the population is stratified into respective genotype groups.

20
Q

What is a risk allele?

A

The allele that is associated with the genetic predisposition of the disease; the allele that is evidently most frequency within the population and thus attributed to developing pathogenesis

21
Q

What is an additive model?

A

The addition of each risk allele will increase the risk of disease to an extent.

22
Q

What are the risk conditions for CVD?

A

Type 2 diabetes, obesity, high cholesterol, and high blood pressure

23
Q

What are modifiable risk factors?

A

Risk factors are conditions that increase the risk of developing a disease. Modifiable factors are concerned with precautionary measures that can be undertaken to change and reduce the risk associated with the factors

24
Q

What are some examples of modifiable risk factors?

A

Diet, sedentary lifestyle, smoking, and exercise

25
Q

What is a risk factor analysis?

A

Regarding the study of complex disease, identifying modifiable risk factors are pertinent in establishing preventative public health measures and schemes aimed at targeting high-risk groups and lowering the potential for pathology.
Altering habits
Identifying genetic factors can be used to model and predict diseases - strategies can be implemented to facilitate individual lifestyle
Lifestyle habits are observed and collecting within the population, and correlated with risk & frequency of developing CVD.

26
Q

What is heritability?

A

The level of phenotypic variations attributed to genetic factors

27
Q

How can traits be established through twin studies?

A

Monozygotic twins have a 100% shared genetic component
Dizygotic twins have 50% shared genetic component
Twins have shared environmental conditions, therefore phenotypic variations can be compared to establish a relationship with the hereditary trait
Significant differences compared with monozygotic twins

28
Q

What is missing heritability?

A

Single genetic variations cannot account for much of the heritability of diseases, and phenotypes

29
Q

What are the explanations for missing heritability?

A

Rare single nucleotide polymorphisms (Risk alleles infrequent)
Low-frequency variants with intermediate effect; inability to be recognized during GWAs, gene interactions (not investigated); miscalculated estimation of heritability diagnosis; reproducibility of results

30
Q

What is the definition of pharmacogenetics?

A

The study of variability in drug responses, due to genetic differences concerned with drug reactions, understanding the principles of pharmacogenetics on a patient individual basis can be used to improve drug therapy and prescription

31
Q

How does genetics influence pharmacology?

A

Specific medications can be prescribed for the same condition to different patients, patients express degrees of variability in terms of inadvertent drug effects; the concept of personalized medicine