AUTOSOMAL RECESSIVE DISORDER Flashcards

1
Q

Thalassemia

A child who inherits 1 mutated gene is a carrier, which is
sometimes called

A

“thalassemia trait.”

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2
Q

Alpha thalassemia

A

← occurs when a mutation in the gene
that codes for alpha globin results in reduced or absent
production of alpha globins.

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3
Q

Beta thalassemia

A

← occurs with a corresponding change
in the beta globin gene.

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4
Q

Thalassemia is a result of

A

quantitative mutations in the
globin genes

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5
Q

Cystic Fibrosis

A

an example of a recessive disease with lung and
pancreatic involvement

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6
Q

Cystic Fibrosis caused by mutations in the gene that produces the

A

cystic fibrosis transmembrane conductance regulator
(CFTR) protein

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7
Q

(CFTR) protein

A

This protein is responsible for regulating the flow of
salt and fluids in and out of the cells in different parts
of the body

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8
Q

Galactosemia

A

an autosomal recessive genetic disorder causing
difficulty in regulating sugar found in milk

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9
Q

Galactosemia
Accumulation of ____is thought to
cause the other signs and symptoms of disease.

A

galactose-1-phosphate

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10
Q

Lactose intolerance

A

inability to break down the milk
sugar lactose

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11
Q

does not appear helpful in
patients win galactosemia

A

Arginine supplementation

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12
Q

Sickle cell disease

A

A person with sickle cell disease makes a different kind of
hemoglobin called “sickle” hemoglobin

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13
Q

Hurler’s Syndrome
also known as

A

mucopolysaccharidosis Type IH (MPS-IH)

Hurler’s disease

d formerly gargoylism

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14
Q

Hurler’s Syndrome

A

a genetic disorder that results in the buildup of large
sugar molecules called glycosaminoglycans (GAGs, or
mucopolysaccharides) in lysosomes.

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15
Q

Hurler’s Syndrome
Causes:

A

Deficiency of the alpha-L iduronidase

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16
Q

Hurler’s Syndrome
Symptoms

A

clouding of the front part of the eye (corneal
clouding)

frequent upper respiratory infections.

enlarged tonsils and/or adenoids.

distinct facial features (coarse facial features)

hernias

17
Q

Hemochromatosis

A

gene called HFE is most often the cause of hereditary
hemochromatosis

18
Q

Hemochromatosis
gene called HFE

The HFE gene has 2 common mutations

19
Q

Congenital Adrenal Hyperplasia (CAH)

A

an inherited condition caused by mutations in genes that
code for enzymes involved in making steroid hormones in
the adrenal glands

20
Q

Congenital Adrenal Hyperplasia (CAH)

The most common enzyme defect, ______ leads to excess amounts of male hormones
being produced by the adrenal glands

A

21-hydroxylase
deficiency,