GENETICS - Applied Genetics Flashcards
(155 cards)
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