genetic disorders Flashcards

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1
Q

describe what is autosomal recessive disorder

A

It causes PKU (phenylketonuria), which is caused by a deficiency of an enzyme which is necessary for a proper metabolism

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2
Q

describe what is autosomal dominant disorder

A

Causes Huntington’s disease, which is inherited disorder which is a rare gene

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3
Q

what causes cystic fibrosis

A

When a mutant protein is missing an amino acid and cannot fold correctly

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4
Q

what does cystic fibrosis cause

A

mucus and bacteria build-up which causes damage to the lungs

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5
Q

what are the 4 types of mutations

A

Inversion
Deletion
Translocation
Duplication

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6
Q

What is non disjunction and what condition does it cause

A

when the chromosomes fail to separate during meiosis. it produces gametes (baby) with one missing chromosome or one extra chromosome
Kleinfelter’s syndrome.
Down syndrome

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