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BIOL1005 > Genetic Diseases 1 > Flashcards

Genetic Diseases 1 Flashcards

1
Q

Pellagra

A

Skin abnormalities, intolerance to sun - caused by vitamin B3 deficiency

Inherited but not genetic

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2
Q

Brachydactyly

A

Short hands stubby fingers

Dominant Mendelian Inheritance

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3
Q

Achondroplasia

A

Dwarfism

Dominant Mendelian Inheritance

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4
Q

Huntington’s Disease

A

Neurodegenerative, causes production of defective huntington protein - motor abnormalities “chorea”

Dominant Mendelian Inheritance
-> Nancy Wexler

Chromosome duplication
>23 CAG repeats on huntington gene

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5
Q

Haspburg Lip

A

Spanish monarchy - eg Philip IV

Dominant Mendelian Inheritance

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6
Q

Cystic Fibrosis

A

Failure in transport protein that moves liquid across cell membranes –> lungs clogged w/ mucus

Recessive Mendelian Inheritance
1/25 in Europeans

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7
Q

Albinism

A

Absence of pigment in hair/skin

Recessive Mendelian Inheritance

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8
Q

Rice: high yield+short stalks

A

Recombination of high yield tall X low yield short

Recombination

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9
Q

Flu

A

H1N1 differ from 1918 massive flu virus by 1bp

-> Recombination

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10
Q

Tay-Sachs Disease

A

Deficiencies in hexosanimade enzyme activity - deterioration of nerve cells and of mental and physical abilities

Recessive Incomplete Dominance

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11
Q

Blood groups

A

A - B, codominance

The phenotypic effects of a gene’s allele fully & simult expr in htz

A,B,O - multiple alleles

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12
Q

Sickle Cell

A

Sickle cell trait: htz, have equal concentrations of normal and “sickle” haemoglobin

1 aa change-> anaemia, heart failure, paralysis, enlarged spleen, brain damage, poor circulation, malaria resistance

=> also pleiotropy

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13
Q

Eye Colour

A

Multiple alleles

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14
Q

Mouse coat color

A

yellow vs WT -> lethal recessive alleles

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15
Q

Manx Cat

A

Tail is a short stub - lethal recessive alleles

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16
Q

Blue-eyed deaf white cats

A

Deficiency in melenin - affects pigment but there is also melanin in ear that does sth

Pleiotropy

17
Q

Aggressive tabby cats

A

Pleiotropy

18
Q

Usher Syndrome

A

Deafness and blindness

-Pleiotropy

19
Q

Sex Limitations

A

Testosterone

- add testosterone to a female -> exhibits various male secondary sex characters (eg beard, baldness)

20
Q

Autism

A

Several genes affect 1 character - 1 locus alters phenotype produced by other locus

21
Q

Mouse coat colour (similar in horses)

A

At least 5 interacting loci: A-color distribution, B-color, C-presence/abs (epistatic), S-pigment distribution
- Gene Interaction

22
Q

Secretor Phenotype

A

Interaction bw Se locus and ABO blood group locus

Se / Sese - produce ABO substances in saliva, semen
- Dominant but gene interaction

BIOL1005 (7 decks)

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