inheritance patters Flashcards

1
Q

homogametic

A

XX, ZZ

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1
Q

heterogametic

A

XY, ZW (determines gender)

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2
Q

how many alleles does an animals have/gene

A

two

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3
Q

what is an allele

A

a version of a gene

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4
Q

why is an example of an ethical mate choice for a dominant mutation in manx

A

-in manx cats to breed mm X Mm because you will result in 50% Mn (show quality) and 50% mm (tails)
-same precent will be show quality in Mm X Mm except 1/4 will be MM and die, with 1/4 long tail

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5
Q

breeding Oo X Oo ovaro in horses

A

-1 oo (solid)
-2 Oo (ovaro)
- OO (white, lethal, intestinal issues)

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6
Q

what happens if you breed Pp X Pp Chinese crested dog

A

1/4 lethal 1/2 show quality 1/4 powder puff

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7
Q

dominance higharchy

A

-discovering which of more then two genes are more dominant
-because sometimes have more then 2 alleles at a locus

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8
Q

melanocytes

A

produce pigment for hair follicle

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9
Q

what are the two melanin pigments

A

phaeomelanin and eumelanin

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10
Q

phaeomelanin

A

-melanin pigment
-red, yellow, cream

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11
Q

eumelanin

A

-melanin pigment
-black, brown, grey

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12
Q

melanocortin receptor 1 gene MC1R ED

A

ED=eumelanin=black

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13
Q

melanocortin receptor 1 gene MC1R e

A

e/e=phaeomelanin=red

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14
Q

melanocortin receptor 1 gene MC1R E+

A

-“wild type”
-colour depends on other genes
-i.e. brown

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15
Q

heterozygote phenotypes

A

-heterozygots are different from either homozygotes
-codominant (both phenotypes expressed together but observed separately)
-incomplete dominant (both phenotypes expresses as a blend appearance

16
Q

codominance in merle dogs

A

-MM= deaf, some microphthalmic (small eyes)
-Mm= merle, heterochromic irides, some black patches and some white
-mm= not merle

17
Q

SLC45A2 or MATP gene in horses (codominance)

A

-CC=chestnut
-Cc=palomino
-cc=cremello
-if horses are e/e at MC1R, so no black (eumelanin) will be present

18
Q

autosomal recessive generalizations

A

-most are enzyme deficiencies (inborn errors of metabolism)
-phenotype is generally consistent, exspecially within a family
-symptoms often severe
-consanguinity common (linebred)

19
Q

why are many diseases called autosomal recessive

A

-because neither parents looks affected
-however not always autosomal recessive because you cant see it (can have reduced penetrance or be “dimmed”)
-but recessive X recessive=100% recessive offspring
-but such breeding is often not possible

20
Q

symptoms for autosomal recessive (generlizations)

A

-often severe
-many such disorders are present at birth=congenital
-if untreated, they are often lethal

21
Q

autosomal recessive (generlizations) consanguinity

A

-offten disorders show up when linebred is lised

22
Q

implications of autosomal recessives

A

-cull the homozygote affected
-both parents are “obligate” carriers…cull?

23
Q

what are the statistics if you were to breed two autosomal recessive carriers

A

-1 AA: 2 Aa: 1aa
-1/3 of unaffected not carriers
-2/3 of unaffected are carriers
-because 2/3 unaffected are carriers its important to have access to a carrier direction kit

24
Q

carrier detection tests

A

-breeding test
-direct tests (biochemical, DNA test for mutation)
-indirect test (DNA linkage test)

25
Q

carrier detection breeder tests

A

-mate a sire of interest to either affected dams of heterozygous carrier dams and see if any affected offspring are born
-if so sire is a carrier

26
Q

spider syndrome in sheep

A

-mate with carriers
-Ss ewes (s/s do not survive to breeding age)
-16 off spring all ok=99% chance sire is S/S
-if S/s X S/s
-1/4 of lambs will have spider syndrome

27
Q

testing if a polled sire carries horns

A

-mate sire to horned cows (homozygous p/p)
-polled in cattle is dominant to horned
-7 offspring have no horns= 99% chance sire PP
-(1/2)^7=0.0078

28
Q

how many times do you have to breed test something matted to aa (recessive)

A

7x

29
Q

ho many times do you need to mate to Aa (carrier)

A

16x

30
Q

mechanisms of a direct biochemical test

A

-measures specific range (level) of enzymes or protein
-Beta-mannosidosis or deficency of beta mannosidase
-homozygous normal=100% active (BB)
-heterozygote=50% active (Bb)
-affected=0% active (bb)
-gene dosage=affect
-not all samples give definitive results

31
Q

mechanisms of direct test DNA test for the mutation

A

-most tests now based on PCR
-method to amplify small amounts of DNA
-samples: hair roots, buccal swab, blood, semen

32
Q

indirect tests: DNA linkage test

A

-used when the causative gene is not known
-location of gene, or biochemical pathway, etc. is known
-less accurate then direct test i.e. depends on distance of marker to gene

33
Q

DNA linkage test mechanism

A

-use a marker “linked” to the causative gene
-DNA variation within an intron or other noncoding segment
-markers do not affect any phenotype so have “accumulated” in animals
-which allele segrates with the allele of interest is pedigree specific
-therefore must sample the family ot test for carriers

34
Q

when does recombination occur

A

during meiosis between homologous chromosomes

35
Q

why would a carrier detection test be used for a dominant disorder

A

-if dominant dis order is late onset, so genotype is know prior to breeding