GENETICS - Applied Genetics Flashcards
What is a pedigree?
A pedigree is a record of genealogical data for an animal
What are the five main purposes of a pedigree?
Confirmation of identity
Breeding for specific traits/avoiding undesirable traits
Suggests mode of inheritance for specific traits
Estimation of inbreeding coefficients
Management of small or fragmented populations to minimise inbreeding
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Male
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Female
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Mating
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Dizygotic twins (non-identical)
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Monozygotic twins (identical)
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Affected individuals
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Heterozygotes for autosomal recessive mutation
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Carrier individual
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Dead individual
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Propositus
What does propositus mean?
Propositus is the first individual to present with a specific phenotype or condition
What are Mendelian genetics?
The study of certain patterns of how traits are passed from parent to offspring
What is autosomal recessive inheritance?
Autosomal recessive inheritance is when an individual inherits two mutant recessive alleles from carrier parents
Why are autosomal recessive diseases so common?
Both parents are carriers so often breeders don’t realise that these individuals are carrying mutant alleles before breeding them and producing offspring which may express the disease
List three examples of autosomal recessive diseases
Leukocyte adhesion deficiency
Von Willebrands disease
Severe combined immunodeficiency in horses (SCID)
What are some of the key features seen in autosomal recessive inheritance?
Males and females affected at an equal frequency
25% of offspring likely to be affected
Both parents of affected offspring are carriers
What is autosomal dominant inheritance?
Autosomal dominant inheritance is when an individual inherits one mutant dominant allele from one heterozygous parent carrying the mutation
Why are autosomal dominant diseases so rare?
The parent carrying the mutation is heterozygous so the disease is phenotypically expressed and most breeders won’t breed an individual with a genetic disease
Give an example of an autosomal dominant disease
Hyperkalaemic periodic paralysis (HYPP) in horses
Which complication can arise that makes autosomal dominance diseases slightly more common?
Incomplete penetrance
What is incomplete penetrance?
Incomplete penetrance is when an individual carries a disease but does not express the disease phenotype
Give an example of an autosomal dominant disease with incomplete penetrance
Polycystic kidney disease in cats
What are some of the key features of autosomal dominant inheritance?
Males and females affected at an equal frequency
50% of offspring likely to be affected
Affected offspring have an affected parent
Why is there no male to male offspring transmission in X-linked recessive inheritance?
There is no male to male offspring transmission as the male offspring inherits the Y gene from his father and the X gene from his mother
What are some of the key features of X-linked recessive inheritance?
No male to male offspring transmission
Affects alternate generations
What are quantitative traits?
Quantitative traits are phenotypes with continuous variation, meaning traits that can take a range of values rather than being limited to distinct categories
What is locus heterogeneity?
Locus heterogeneity is when a single phenotype can be derived from mutations on multiple different loci
Give an example of a disease caused by locus heterogeneity
Hypertrophic cardiomyopathy in cats
What is allele heterogeneity?
Allele heterogeneity is when different phenotypes can be derived from multiple mutations at a single locus
Give an example of a disease caused by allele heterogeneity
Double muscling in cattle
What is the general definition of inbreeding?
Inbreeding is the mating of relatives more closely related than the average for the population
Inbreeding increaes homozygosity. What is homozygosity?
Homozygosity is when an individual carries two identical copies of allele for a particular gene
What are the three consequences of inbreeding?
Prepotency
Inbreeding depression
What is prepotency?
Prepotency is the greater ability of one parent to consistently pass on its traits to its offspring
What is inbreeding depression?
Inbreeding depression is a decrease in fitness and health of the offspring due to the increased likelihood of inheriting harmful genetic traits
What percentage of pedigree inbreeding is acceptable within a population?
Less than 6.25%
What is population genetics?
Population genetics is a subfield of genetics that deals with the genetic varaition within and among populations
What is genetic diversity?
Genetic diversity is the variety of genetic information within a population or species
Why is it important to be able to quantify genetic diversity in veterinary medicine?
Quantifying genetic diversity allows us to gain insights into the genetic makeup of different animals populations, which is essential for breeding programmes, disease management, preventing the spread of genetic disorders and conservation efforts
What are the two commonly used markers used to quantify genetic diversity?
Microsatellites
Single nucleotide polymorphisms (SNPs)
What are microsatellites?
Microsatellites are repeated sequences of 2-5 DNA base pairs with variable number of repeat units located within the introns of genes
What are single nucleotide polymorphisms (SNPs)?
Single nucleotide polymorphisms (SNPs) are locations on the genome where a measurable proportion of the population has one nucleotide and the remainder of the population has another nucleotide
What are some of the possible functional consequences of single nucleotide polymorphisms (SNPs)?
Some single nucleotide polymorphisms (SNPs) have functional consequences that can lead to changes in the amino acid and thus protein sequence (non-synonymous substitution) or alter gene expression. These changes can directly affect how the protein functions or how much of the protein is produced
What increases the possibility of functional consequences due to single nucleotide polymorphisms (SNPs)?
SNPs located in an exon of a gene
Non-synonymous SNPs can directly change the amino acid sequence of a protein
Why are single nucleotide polymorphisms (SNPs) located in exons of a gene more likely to have functional consequences?
When a single nucleotide polymorphisms (SNP) is located in the exon of a gene, it has a higher chance of functional consequences as exons code for protein sequences
Why are non-synonymous single nucleotide polymorphisms (SNPs) more likely to have functional consequences?
Non-synonymous single nucleotide polymorphisms (SNPs) can directly lead to changes in the amino acid and thus protein sequence (non-synonymous substitution)
How are single nucleotide polymorphisms (SNPs) detected for quantifying genetic diversity?
SNPs are detected for quantifying genetic diversity through genetic sequencing or using species specific SNP chips labelled with DNA propes
What are indels?
Indels are a collective term for insertion and deletion mutations
What are haplotypes?
A haplotype is any combination of alleles at multiple loci on the same chromosome. These alleles can be a combination of SNPs, microsatellites and/or indels
*Remember, alleles are variations in DNA base pairs at specific loci of gene encoding for different traits, and SNPs, microsatellites and indels are all variations in DNA base pairs *
When are two homologous chromosomes considered to have the same haplotype?
Two homologous chromosomes are considered to have the same haplotype if both chromosomes share the same allele at each of the loci under consideration
When are two homologous chromosomes considered to have a different haplotype?
Two homologous chromosomes are considered to have a different haplotype if any of the alleles are different at each of the loci under consideration
Why is studying haplotypes important in population genetics?
Studying haplotypes allows us to understand how genetic variations are distributed among different populations as well as evolutionary history of that population
What is a gene pool?
A gene pool is the total number of all alleles within the breeding population
What is the Hardy-Weinberg equilibrium (HWE)?
The Hardy-Weinberg equilibrium (HWE) is the condition in which both gene (allele) and genotype frequencies in a population remain constant from generation to generation unless acted upon by evolutionary factors
What is the difference between gene (allele) and genotype frequencies?
Gene (allele) frequency refers to the proportion a specific allele at a specific locus within a population. Genotype frequency refers to the proportion of individuals within a population that have a particular genotype
What are the five assumptions of Hardy-Weinberg equilibrium (HWE)?
Random mating
Absence of selection
Absence of mutation
Absence of migration
Absence of genetic drift
What is the Hardy-Weinberg equilibrium (HWE) equation for gene/allele frequency?
p + q =1
p is the dominant allele frequency within a population
q is the recessive allele frequency within a population
What is the Hardy-Weinberg equilibrium (HWE) equation for genotype frequency?
p² + 2pq + q² = 1
p² is the homozygous dominant genotype
2pq is the heterozygous genotype
q² is the homozygous recessive genotype
What are the five indicies used to express genetic diversity?
Percentage of polymorphic loci (P)
Number of alleles (A)
Observed heterogeneity (Ho)
Expected heterogeneity (He)
Allelic richness or effective allele number (Ae)
What is the percentage of polymorphic loci (P)?
The percentage of polymorphic loci (P) refers to the proportion of the population that has a different alleles at a specific genetic loci, indicating the level of genetic diversity within a population