Examples Flashcards

1
Q

What is an example of incomplete dominance

A

Mirabilis japonica. Red x White: F1 all pink. F2: 1:2:1
Tay Sachs
Incomplete Dominance seen at molecular level

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2
Q

What is Codominance. Examples

A

Expression of both alleles fully and simultaneously. Both alleles are seen in the phenotype.
Red cows x White cows: Red cow with white spots
Sickle Cell anaemia: hetrozygotes are distiguishable
ABO blood group

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3
Q

What is multiple alleles

A

Multiple alleles at one loci effect the phenotype
Drosophilla, traditional white eye/red eye. Other alleles produce other colour e.g. apricot eyes
Human blood group, ABO

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4
Q

What is Lethal alleles

A

Homozygotes are lethal.
Affects the ratio seen: 2:1
Yellos mice x Yellow mice : Yy x Yy, yy dies
Y allele dominant for coat colour, recessive for viability
Manx Cat, no tail. Brachydactly homo dom normal, hetro short limbs, homo rec, lethal

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5
Q

Pleiotropy

A

One gene has many effects
Blue eyed cats are deaf. Tabby cats are aggressive
Sickle cell anaemia: aneamic, heart failiure, paralysis, enlarged spleen, bossed skulls… + malaria resistance

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6
Q

Gene interaction

A

Expression of an allele at one locus is affected by another allele at another locus
Albinism in mice.
Sex limitation. Certain phenotypes are limited to one gender: patterned baldness, breast cancer.
Due to the activation of certain genes by testosterone

Coat Colour in mice, 5+ interacting loci
Wild type agouti: dark shaft yellow band (A). (a) removes yellow band. B codes for hair colour: B for black b for brown
9:Agouti
3:cinnamon
3:black
1:brown
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7
Q

Epistatis

A

Example of gene interaction: Gene at one loci can lead to the inexpression of another gene at another loci
Albinism: C allele codes for pigment. Recessive is albino
9:3:4 ratio. No pigment regarless of genes at other loci
D controls to what degree pigment is expressed: D fully, d dilute
S, S- not spotted, ss pleibald, patches of colour

ABO: Se

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8
Q

Complementation

A

Different homozygous recessive at different loci produce the same phenotype
White plant from 2 strains, homo at different loci
F1: all Purple, complement colour. Heterozygous at both loci. Genes complement to give a new colour
F2: 9:7 ratio. homozygosity at any loci gives white plant

Complementation test:
Organism with different mutation. When crossed, F1 all 1 of the mutations, no complementation. If F1 is a new phenotype, complement, The loci complement
Human deafness, Many loci coding for different parts of the hearing system. Mutation at one leads to the same phenotype, deafness.
If two deaf people with mutation at different loci: offspring will be hearing, complementation between the two loci`

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9
Q

What is sex linkage

A

..

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10
Q

What is the evidence for chromosome theory

A

F1

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11
Q

What is the inheritance of eye colour in drosphilla

A

Red female x White male= F1 all red, F2 all females red half males red, half males white
Red males x White males = F1 red females.
F2: Fem half red, half white. Males half red, half white
Showed that the locus for each colour is carried on the X chromosome
Inheritance of allele is like that inheritance of a solid object

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12
Q

What occus if alleles fail to segregate

A

Aneuploidy. Drosophilla: XX x Xy
XwXwX. female dies. XwXwY female, white
XO: red male. YO dies

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13
Q

What aneuploidy is viable in humans

A

XO: turner diesease, XXX viable. Both female
XXY: Kleinfelter syndrome viable male: Not fertiles, small testicles and little terstosterone due to extra X
Mosaic KS: some cells are aneuploidy, some arent. mild effects
Trisomy of chromosome 21
Edward’s Syndrome, trisomy of 18

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14
Q

Sex determination in other animals

A

Birds, Butterflies: ZZ male, ZW female

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15
Q

How dosage equalised

A

Lyonisation in humans: X inactivation specific transciprt. Xist, produces RNA with now protein, coats X chromosome. Barr body can be seen in karyotype
Drosophilla, 2 X = normal expression. In males, X chromosome is doubly expressed

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16
Q

Conditons related to the inactivation of X chromosome

A

Tortise shell cat. Cells inacitvate X chromosome randomly. Half orange, half black
Hetro women for colour blindness have patches of red green retina along with colour blind patches

17
Q

What is patau syndrome

A

Trisomy of chro 13

18
Q

What is a chromsome

A

Single molecule of DNA. Organised by size.
1 largest, y smallest
Cetromeres, attachment point for spindles
Telomeres, repeated sequence at the end. Protection
P short, Q long. Acrocentric uneven. Metacentric
Telocentric

19
Q

What is a method of mapping?

A

Somatic cell hybridisation

Flourescent In Situ Hybridisation (FISH)

20
Q

Explainthe process of SCH

A

Cellculture of Human and mice cells. Sendai virus has multiple point of attachment, thus, can attach two cells together.
Virus is very small, membranes overlap. Leads to fusions and formation of a binucleate heterokaryon.
Fusion of nuclei to form uninucleate synkaryon.
Hybrid can be slected for:
De novo pathwayu of DNA synthesis is blocked by aminoptetrin. Only salvage pathway can be used
2 key enzymes in salvage: Thymine kinase, HPGRT
1 organism has 1 enzyme. Other has the other
Both is needed for DNA synthesis
Only hybrids will survive. Human DNA is spat out over time as it is less stable (Griffiths et al, 2000)
Elimination of human DNA can be studied using microscopes

21
Q

Which conditions are observed with deletions

A

Notch wing drosophilla.

Cri-du-Chat humans. Tip of chro 5 lost

22
Q

Duplication conditions

A

Deletions caused by base mispairing
Huntington’s disease
Bar eyes in drosophilla

23
Q

Translocation conditons

A

2 non-homologous proteins exchange parts
Burkitt’s: t(8,14)
Myelpid leukaemia: t(9,22)

24
Q

Chromosome number alterations

A

Aneuploidy: cells do not have typical number of chro
Nondisjunction: lack of segregation at anaphase I,II. Responsible for trisomy and monosomy
Polyploidisation: change in number of chromsome sets. Lethal in humans. Linked to fertility
Alloploidy: fusion of distinct chromosome sets
Autoploidy: duplication of a diploid set of chromosomes

25
Q

What is the back-test cross

A

F1 crossed with parent. 1:1:1:1 ratio
Crossed with double mutant of parent
If genes are linked, vast majority are parent’s genotype, very few are the recombinants
Recombinant formed by the chiasma of 2 hologuous chromosomes during prophase 1

26
Q

What is interference.

A

Interferance the chiasma at one loci influences (reduces) the probabilty of a chiasma at another loci.
Observed/expected. Coeffiecient= 1-(observed/expected)

27
Q

What can gene expression be affected by

A

Temperature: Siamese cats. cold activates melanin gene
Also: white blood drosoophilla. Fly development at 15 degrees= dark eye, 30 degrees = light coloured eyes

Light: expression of cryptocchrome determine day length
Artic hares, long hours of sun dark fur. winter light

Chemicals: Some bacteria can only grow on certain food. E-Coli which lack the gene to synthesise AA can not grow on plate with those AA
Phenylketonuria. Human can’t break down phenylalanine, build up of Phe can be lethal
George II, porphyria, unable to break down haemin. Gene expression sensitive to light
Expressoin of some genes is affected by drugs. Barbituates can be lethal at lower doses in porphyria
Obese mutation in mice: mice have gene, can’t stop eating

Age: Hutington is not seen until for over 50s. Same with cancer and heart disease

28
Q

Incomplete Penetrance

A

Someone who has disease genotype does not have disease. It’snot expressed

29
Q

Sex limitation

A

Effects of hormonal environment:
Dorsett horn sheep, male have horns, females do not
patternes baldness, loci on autosomal chromosome, but dependent on the expression of genes on Y chromosome