Human Genetic Disorders Flashcards

(47 cards)

0
Q

______ traits are always expressed in a persons phenotype.

A

Dominant

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1
Q

How many pairs of matching homologous chromosomes are there?

A

22

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2
Q

Huntington’s disease is a _____ genetic disorder caused by a rare autosomal dominant allele (causes death)

A

Lethal

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3
Q

Dominant allele on chromosome __ is the culprit for Huntington’s disease.

A

4

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4
Q

Huntington’s disease is the deterioration of the ______ system, particularly the brain.

A

Nervous

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5
Q

Huntington’s disease results in….

A

Uncontrolled, jerky movements of head and limbs

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6
Q

Achondroplasia is a form of _______

A

Dwarfism

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7
Q

Achondroplasia is inherited as an autosomal _______ disorder.

A

Dominant

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8
Q

People who have achondroplasia have abnormally short ____ & ____ relative to other body parts.

A

Arms & legs

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9
Q

People who see and write letters or parts of words backwards have….

A

Dyslexia

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10
Q

Dyslexia is a ______ trait.

A

Dominant

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11
Q

Most genetic disorders are caused by ______ alleles.

A

Recessive

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12
Q

Cystic fibrosis is one of the most common _____ genetic disorders among Americans.

A

Lethal

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13
Q

The gene for Cystic Fibrosis is located on chromosome __.

A

7

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14
Q

In cystic fibrosis, mucus accumulates in the ________ tract and in lungs.

A

Digestive

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15
Q

During Cystic fibrosis, breathing is difficult, thickened _____ slows secretion of digestive enzymes, so food can not be digested properly.

A

Mucus

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16
Q

Treatments for Cystic fibrosis include….

A

Physical therapy, special diet, and new drug therapies

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17
Q

Most common in black Americans whose families originated in Africa and white Americans whose families originated in countries surrounding the Mediterranean Sea.

A

Sickle cell anemia

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18
Q

Sickle cell anemia is inherited as autosomal _____ trait.

19
Q

Someone with Sickle cell has red blood cells that are shaped like a sickle (half moon) not _____.

20
Q

The life span of sickle cells are _____.

21
Q

Sickle cell anemia clogs small blood vessels causing _____ damage and deprivation of oxygen and nutrients.

22
Q

Treatments for Sickle cell anemia include….

A

Blood transfusion and drug therapy

23
Q

Tay Sachs is an autosomal _____ disorder.

24
Tay Sachs affects the central ____ system.
Nervous
25
Recessive alleles result in the absence of _____ that normally break down a _____ produced and stored in tissues of the central nervous system.
Enzymes, lipid
26
In Tay Sachs, the lipid accumulates in the ____.
Brain
27
Tay Sachs results in...
Blindness, loss of movement, and mental deterioration
28
Symptoms of Tay Sachs begin within the __ year of life.
1st
29
Tay Sachs results in death before age __.
5
30
The allele in Tay Sachs is common among Pennsylvania Dutch people and the ____________ people.
Ashkenazi Jewish
31
PKU is an abbreviation for.....
Phenylketonuria
32
PKU results from the absence of enzymes that convert the amino acid, phenylketonuria, to ______.
Tyrosine
33
PKU accumulates in the body and damages the _________ system.
Central nervous
34
When are tests for PKU given?
At birth
35
Infants affected by PKU are given a diet low in phenylalanine until ________.
Their brains are fully developed
36
Which disorder means having no skin pigment?
Albinism
37
_____ results in very pale skin and white-blonde hair.
Albinism
38
Albinism affects ___ races.
All
39
An X-linked inheritance is located on the _________.
Sex chromosomes
40
Examples of an X-linked Inheritance disorder are...
Color blindness ; Hemophilia
41
Color blindness is the inability to distinguish __________.
Among some or all colors
42
In color blindness, mutant forms of the X-linked genes change the light-absorbing of sensory ______ inside the eyes.
Receptors
43
Normally, humans can detect differences among ___ colors. One with red-green color blindness sees fewer than __ colors.
150, 25
44
Hemophilia is a _____ clotting disorder.
Blood
45
About 1 in ____ males are affected.
7,000
46
Treatments for hemophilia include...
Plasma, gene cloning, Factor VIII drugs