Ch.24: Medical Genetics Flashcards

1
Q

If an individual exhibits a disease, where is the disorder more likely to occur?

A

in genetic relatives rather than the general population

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2
Q

What are the ways genetic diseases are classified?

A

autosomal recessive, autosomal dominant, X-linked recessive and X-linked dominant

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3
Q

How does Autosomal recessive inheritance work?

A

Usually caused by parents that are heterozygous carriers of the recessive allele that causes the disease

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4
Q

How does Autosomal dominant inheritance work?

A

One parent must carry the allele that causes the autosomal dominant disease

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5
Q

How do X-linked recessive human disorders transfer?

A

-The heterozygous mother for the X-linked recessive trait, who is the carrier, passes the recessive allele, which causes the disease, to her sons.
-Because males are hemizygous for the X chromosome, all males harbor the disease.

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6
Q

Where are X-linked dominant human disorders more severe at?

A

in males because they are hemizygous for the X chromosome

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7
Q

Describe the detection of disease-causing alleles via haplotypes

A

Haplotypes that are closely linked to a gene with a mutation that causes a disease can be used to map the disease-causing allele, because recombination cannot separate haplotypes that are closely linked to a disease-causing allele from the disease-causing allele

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8
Q

What are prions?

A

infectious proteinaceous particles caused by abnormal defective proteins

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9
Q

What is Gene therapy?

A

the introduction of cloned genes into living cells in an attempt to cure a disease

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10
Q

What is Personalized medicine?

A

is the use of a patient’s genotype to select a treatment suited for that patient

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11
Q

How much does a complete genome sequence and analysis cost?

A

~ $500.00

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