genetics lecture 5 Flashcards

1
Q

Autosomal recessive trait

A

individual must inherit two copies of the recessive allele
, one from each parent.
Individuals with only one recessive allele are carriers; they do not show symptoms but can pass on the disease allele to their offspring.

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2
Q

what is a autosomal recessive disorders

A

genetic conditions caused by mutations in genes located on autosomal chromosomes, which are chromosomes other than the sex chromosomes (X and Y).

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3
Q

what causes albinism

A

mutation in one of several genes.

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4
Q

what caues sickle cell anaemia

A

Caused by an abnormal type of haemoglobin called haemoglobin S

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5
Q

what are the effects of sickle cell anemia

A

Haemoglobin S changes the shape of red blood cells, especially when the cells are exposed to low oxygen levels. The red blood cells become shaped like crescents or sickles.

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6
Q

what is the dna base that changes in SCA

A

a valine is replaced by a glutamate in the protein (e.g. Mis-sense mutation).

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7
Q

what are some results due to phentoypic expression

A

Anaemia
Fatigue
Shortness of breath

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8
Q
A
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