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AP Bio > 14.2 Human Genetic Disorders > Flashcards

14.2 Human Genetic Disorders Flashcards

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1
Q

Changes in the genes DNA sequence can alter

A

Proteins and phenotypes

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2
Q

There is a ____ basis for genetic disorders

A

Molecular

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3
Q

How many types of genetic disorders are there

A

3

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4
Q

What are the three types of genetic disorders

A

Autosomal disorders chromosomal disorders and sex linked disorders

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5
Q

Autosomal disorders

A

Genetic disorders In autosomes

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6
Q

What are some examples of autosomal disorders

A

Sickle cell disease cystic fibrosis Albinism and Huntington’s disease

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7
Q

Sickle cell disease

A

Caused by a defective allele for beta globin

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8
Q

Is sickle cell disease recessive or dominant

A

Recessive

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9
Q

Where is sickle cell disease common

A

In tropical regions

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10
Q

Beta globin

A

One of the two polypeptides in hemoglobin

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11
Q

Hemoglobin

A

Oxygen carrying protein in red blood cells

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12
Q

What is the life expectancy of someone with sickle cell disease

A

42 to 47 years

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13
Q

Why is the defective allele for beta globin bad

A

It makes hemoglobin less soluble which causes it molecules stick together when the blood oxygen level decreases This causes the molecules to clump into Long fibers making the cell sickle shaped

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14
Q

Sickle cells Are bad because

A

Sickle cells are more rigid than red blood cells which makes them stick to the walls of capillaries Which causes blockages of blood flow

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15
Q

Capillary

A

Narrowest blood vessel in the body

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16
Q

Is there a cure for sickle cell disease

A

Bone marrow transplant

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17
Q

Cystic fibrosis is Also known as

A

CF

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18
Q

Why does cystic fibrosis occur

A

Malfunctioning tissues because cell membranes cannot transport chloride ions

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19
Q

Is cystic fibrosis a recessive or dominant disorder

A

Recessive

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20
Q

What does cystic fibrosis cause

A

Serious digestive problems thick heavy mucus which clogs lungs and pancreas and bacterial infection

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21
Q

Why are there many people with cystic fibrosis even though it is fatal

A

Because when there is only one copy of the CF allele it is not expressed and instead fights against other diseases

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22
Q

What is Huntington’s disease caused by

A

A dominant allele for protein found in brain cells
Neurons breaking down

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23
Q

What does Huntington’s disease cause

A

Mental deterioration uncontrollable movements

24
Q

When does Huntington’s disease usually appear

A

Middle-age

25
Q

Who is Huntington’s disease recessive or dominant

A

Dominant

26
Q

Chromosomal Disorders

A

Incorrect number/structure of chromosomes

27
Q

What are some examples of chromosomal disorders

A

Down syndrome turner syndrome and Klinefelter syndrome

28
Q

Down syndrome is also known as

A

Trisomy 21

29
Q

Trisomy

A

Three copies of a chromosome

30
Q

What is the most common trisomy

A

Down syndrome

31
Q

What is down syndrome caused by

A

Three copies of chromosome 21

32
Q

What does down syndrome cause

A

Mental retardation and high frequency of birth defects such as height face and heart problems

33
Q

What is turner syndrome caused by

A

Nondisjunction of the X chromosomes

34
Q

What does turner syndrome cause

A

Women to only inherit one X-chromosome which causes their sex organs to not to develop properly during puberty

35
Q

Woman with turner syndrome are

A

Sterile

36
Q

Turner syndrome is a

A

Monosomic condition

37
Q

Monosomic

A

Missing a chromosome

38
Q

What is Klinefelters syndrome caused by

A

Nondisjunction in males which causes them to have an extra X chromosome

39
Q

What does Klinefelter syndrome cause

A

Men are not able to reproduce

40
Q

Because no babies have been born without the X chromosome scientists have concluded that

A

It contains genes in this area for development and survival

41
Q

Nondisjunction

A

One homologous chromosomes failed to separate and anaphase one

42
Q

How many types of nondisjunction are there

A

Two

43
Q

Nondisjunction is more common in

A

Older females

44
Q

What are the two different types of nondisjunction

A

Nondisjunction in meiosis one and Nondisjunction in meiosis two

45
Q

What does nondisjunction in meiosis one result in

A

2 gametes: n+1
2 gametes: n - 1

46
Q

N

A

A single set of chromosomes

47
Q

Nondisjunction in meiosis two results in

A

1 gamete: n + 1
1 gamete: n - 1
2 gametes: n

48
Q

What are examples of sex Linked disorders

A

Hemophilia and red green color blindness 

49
Q

Hemophilia

A

Blood clotting disorder which causes people to not blood clot when they need to

50
Q

What is hemophilia caused by

A

A missing gene

51
Q

Hemophiliac is more common in

A

Males

52
Q

Red green color blindness

A

Cannot see red or green

53
Q

Red green color blindness is more common in

A

Males

54
Q

Albinism

A

disorder which causes your skin, hair,etc. cells to not produce melanin

55
Q

Is Albinism recessive or dominant

A

recessive

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