Pedigree (younger) Flashcards

1
Q

How many alleles are required for the disease to be expressed with autosomal recessive?

A

2 mutant alleles

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2
Q

True/False: an affected person is usually born to unaffected parents.

A

True

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3
Q

True/False: Only mother is obligate carrier with autosomal recessive.

A

False, both parents of the child are obligate carriers

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4
Q

True/False: Male to male transmission can occur with autosomal recessive.

A

True

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5
Q

True/False: With autosomal recessive it usually involves catalytic proteins.

A

True

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6
Q

True/False: For x-linked there is male to male transmission of the mutant allele.

A

False, there is no male-male transmission

Usually only affects males.

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7
Q

______________ is very rare, no high yield diseases.

A

x-linked dominant inheritance

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8
Q

X-linked always means X-linked __________.

A

recessive

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9
Q

What are some x-linked conditions?

A

Duchenne and Becker muscular dystrophy
Lesch-Nyhan (HGPRT deficiency purine recycling deficiency)
Glucose-6-phosphate dehydrogenase deficiency
Hemophilia A and B

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10
Q

What are the only organelles in humans that contain their own DNA?

A

Mitochondria

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11
Q

If you are talking about mitochondrial inheritance we know that we inherited the disease exclusively from what parent? Why?

A

Mother

During fertilization, sperm do not pass their mitochondria to the egg cell

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12
Q

What are some facts of mitochondrial inheritance?

A

Only inherited maternally
Both males and females can be affected
All offspring of an affected female are affected
No offspring of an affected male are affected

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13
Q

What is a disease example with mitochondrial inheritance?

A

LHON (leber Hereditary Optic Neuropathy)

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