Human Genetic Disorders Flashcards

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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.

A

Recessive

19
Q

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

A

Round

20
Q

The life span of sickle cells are _____.

A

Shorter

21
Q

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

A

Tissue

22
Q

Treatments for Sickle cell anemia include….

A

Blood transfusion and drug therapy

23
Q

Tay Sachs is an autosomal _____ disorder.

A

Recessive

24
Q

Tay Sachs affects the central ____ system.

A

Nervous

25
Q

Recessive alleles result in the absence of _____ that normally break down a _____ produced and stored in tissues of the central nervous system.

A

Enzymes, lipid

26
Q

In Tay Sachs, the lipid accumulates in the ____.

A

Brain

27
Q

Tay Sachs results in…

A

Blindness, loss of movement, and mental deterioration

28
Q

Symptoms of Tay Sachs begin within the __ year of life.

A

1st

29
Q

Tay Sachs results in death before age __.

A

5

30
Q

The allele in Tay Sachs is common among Pennsylvania Dutch people and the ____________ people.

A

Ashkenazi Jewish

31
Q

PKU is an abbreviation for…..

A

Phenylketonuria

32
Q

PKU results from the absence of enzymes that convert the amino acid, phenylketonuria, to ______.

A

Tyrosine

33
Q

PKU accumulates in the body and damages the _________ system.

A

Central nervous

34
Q

When are tests for PKU given?

A

At birth

35
Q

Infants affected by PKU are given a diet low in phenylalanine until ________.

A

Their brains are fully developed

36
Q

Which disorder means having no skin pigment?

A

Albinism

37
Q

_____ results in very pale skin and white-blonde hair.

A

Albinism

38
Q

Albinism affects ___ races.

A

All

39
Q

An X-linked inheritance is located on the _________.

A

Sex chromosomes

40
Q

Examples of an X-linked Inheritance disorder are…

A

Color blindness ; Hemophilia

41
Q

Color blindness is the inability to distinguish __________.

A

Among some or all colors

42
Q

In color blindness, mutant forms of the X-linked genes change the light-absorbing of sensory ______ inside the eyes.

A

Receptors

43
Q

Normally, humans can detect differences among ___ colors. One with red-green color blindness sees fewer than __ colors.

A

150, 25

44
Q

Hemophilia is a _____ clotting disorder.

A

Blood

45
Q

About 1 in ____ males are affected.

A

7,000

46
Q

Treatments for hemophilia include…

A

Plasma, gene cloning, Factor VIII drugs