Mendelian inheritance Flashcards

1
Q

what are the features of autosomal dominant inheritance

A

-each child has 50% chance of inheriting the mutation
-no skipped generations
-male to male transmission occurs here
-male and female transmit

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2
Q

what are examples of autosomal dominant disorder

A

Achondroplasia
huntingsons dieases

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3
Q

what is x-linked inheritance/features of it

A

-no male to male transmission
-can skip generations
-only males are affected
-unaffected women can transmit the condition aswell as affected man

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4
Q

in x-linked inheritance who can transmit the condtion

A

affected males AND UNAFFECTED females

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5
Q

example of x-linked inheritance

A

duchenne muscular dystrophy
hunter syndrome

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6
Q

what is duchenne msucalr dystrophy characteristed by?

A

weakness and progessive muscle degradation

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7
Q

how is achondroplasia inherited ?

A

by autosomal dominant

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8
Q

give 3 examples of autosomal recessive inheritance

A

cystic fibrosis , sickle cell anemia and TAY..

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9
Q

what causes mendelian disease to occur

A

multiple genes in the same molecular pathway

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10
Q

how many genes do you need for autosomal recessive inheritance

A

2 diseased genes, 1 acts as a carrier

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11
Q

how many genes do u need for autosomal dominant

A

only need 1 diseases gene

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12
Q

describe what achondroplasia actually is as a disease

A

genetic condition that affects a protein in the body called the fibroblast growth factor receptor

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13
Q

outcome when the father has the haemophilia gene and the mother is unaffected

A

all their daughters will carry the haemophilia gene but their sons will be unaffected

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14
Q

outcome when the mother has the haemophilia gene but the father is unaffcted

A

daughter and son have 50 percent change of carrying the gene

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