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Genetics Flashcards

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0
Q

Study of heredity

A

Genetics

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1
Q

Used to describe a part of the DNA molecule that contains the information needed to code for the types of protein and enzymes

A

Genes

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2
Q

What are the four nitrogenous bases of DNA?

A

Adenine, cytosine, thymine, guanine

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3
Q

What does DNA do?

A

Directs protein synthesis

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4
Q

What are the two types of DNA?

A

Nuclear and mitochondrial

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5
Q

Accumulation of genes from gametes of two parents

A

Nuclear

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6
Q

Matrilineal inheritance-descent through the female line

A

Mitochondrial

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7
Q

Involved in the actual synthesis of cellular enzymes and proteins

A

RNA

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8
Q

Copies the meaningful strand of DNA and carries the message from nucleus to cytoplasm

A

mRNA

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9
Q

Copying the meaningful strand of RNA

A

Transcription

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10
Q

Selects the appropriate amino acids and carries them to ribosomal RNA

A

tRNA

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11
Q

Forms 60% of the ribosome and assembles the proteins

A

rRNA

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12
Q

Assembling the proteins

A

Translation

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13
Q

Inherited alteration of genetic material

A

Mutation

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14
Q

What do mutations result from?

A

Substitution, loss or addition, or rearrangement of base pairs

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15
Q

Where might mutations arise?

A

Somatic or germ cells

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16
Q

Intracellular structures where genetic information is organized, stored, and retrieved

A

Chromosomes

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17
Q

Examples of haploid cells

A

Ovum and sperm

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18
Q

Examples of diploid cells

A

Somatic cells

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19
Q

Formation of 2 daughter nuclei containing the identical complements of the number of chromosomes characteristic of the somatic cells

A

Mitosis

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20
Q

Replication of germ cells that occurs only in gamete producing cells of the ovaries and testes

A

Meiosis

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21
Q

What are the four phases of the cell cycle?

A

Interphase, prophase, anaphase, and telephase

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22
Q

Actual genetic information

A

Genotype

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23
Q

How the genes are expressed

A

Phenotype

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24
Q

Multiple genes contribute to the trait

A

Polygenic inheritance

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25
Q

Multiple alleles affect outcome and includes environmental effects

A

Multifactorial

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26
Q

Variants in a particular gene

A

Alleles

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27
Q

If both alleles are identical

A

Homozygous

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28
Q

If alleles are different

A

Heterozygous

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29
Q

One allele is more powerful than the other

A

Dominant

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30
Q

What pair of chromosomes determine sex?

A

23

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31
Q

What do females contribute?

A

XX

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32
Q

What do males contribute?

A

XY

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33
Q

When will a recessive allele be evident?

A

If both alleles are recessive

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34
Q

What are most hereditary disorders caused by?

A

Autosomal defects

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35
Q

If an hereditary disorder is sex-linked what is it passed through?

A

X chromosome

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36
Q

Who is affected in autosomal dominant?

A

Male and females equally

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37
Q

If one parent is affected in autosomal dominant what is the chance of offspring being affected?

A

50%

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38
Q

If both parents are affected in autosomal dominant what is the chance of offspring being affected?

A

100%

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39
Q

What is an example of an autosomal dominant disorder?

A

Marfan Syndrome

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40
Q

Causes connective tissue disease

A

Marfan Syndrome

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41
Q

What is a physical trait of Marfan Syndrome?

A

Long tall bodies

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42
Q

Who is affected in autosomal recessive?

A

Male and females equally

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43
Q

If both parents are carriers in autosomal recessive what is the chance of offspring being affected?

A

25%

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44
Q

If both parents are effected in autosomal recessive what chance will the offspring have?

A

100%

45
Q

If one parent is affected and other is not a carrier in autosomal recessive

A

Children will be unaffected but carriers

46
Q

If one parent is affected and the other is a carrier in autosomal recessive

A

Each child will have 50% chance of being affected

47
Q

Most common inherited clotting disease that is the least severe

A

Von Willebrand disease

48
Q

Deficiency or defect of a blood clotting protein that helps platelets aggregate

A

Von Willebrand disease

49
Q

Inherited autosomal recessive gene that causes increasing levels of phenylanine hat leads to brain damage

A

Phenylketonuria (PKU)

50
Q

Lipid pigments accumate because of an enzyme deficiency that destroys CNS cells and is usually fatal by age five

A

Tay-Sachs disease

51
Q

Most common fatal genetic disease

A

Cystic fibrosis

52
Q

Results from mutations that do not allow proteins to function correctly

A

Cystic fibrosis

53
Q

What is lacking in cystic fibrosis?

A

Phenylalanine

54
Q

Does cystic fibrosis have a cure?

A

No

55
Q

What are some symptoms of CF?

A

Viscous mucus secretions, respiratory problems, GI problems, and reproductive problems

56
Q

What are some physical appearance changes with CF?

A

Barrel chest, distended abdomen, and clubbing

57
Q

What are diagnostic tests for CF?

A

Positive sweat test, CXR, stool, DNA testing

58
Q

What are ways to manage CF?

A

Control lung infections, remove secretions, prevent blockages in intestines, provide nutrition, and prevent dehydration

59
Q

What is the inheritance of sickle cell anemia?

A

Homozygous

60
Q

How many African Americans carry abnormal genes for sickle cell?

A

1/10

61
Q

How many black children have sickle cell anemia?

A

1/400-600

62
Q

RBCs look sickled which decreases oxygen carrying and may cause clots

A

Sickle cell anemia

63
Q

Inheritance of genes associated with the X chromosome

A

X-linked

64
Q

Who do males transmit X to?

A

Daughter not sons

65
Q

Who do females transmit X to?

A

Daughter and son

66
Q

Who do x-linked recessive disorders affect?

A

Males with unaffected parents

67
Q

X-linked recessive male disorders

A

All daughters are carriers and males are unaffected

68
Q

What is an example of and x-linked recessive disorder?

A

Hemophilia

69
Q

How do x-linked dominant disorder affect males?

A

Often lethal

70
Q

Who is hemophilia most common in?

A

Males and is rare in females

71
Q

Deficiency of factor 8

A

Hemophilia A

72
Q

Deficiency of factor 9

A

Hemophilia B (Christmas disease)

73
Q

What are some symptoms of hemophilia?

A

Painful swollen joints, limited ROM, spontaneous bleeding, shock like symptoms

74
Q

What are the diagnostics for hemophilia?

A

Coagulation factor, aPTT prolonged, platelets, low factor 8 or 9

75
Q

Treatments for hemophilia A

A

Clotting factors or antihemolitic factors

76
Q

Treatment for hemophilia B

A

Factor 7 or purified factor 9, analgesics, and safety measures

77
Q

Linked to both genes and environment

A

Multifactorial inheritance disorders

78
Q

Examples of multifactorial inheritance disorders

A

Cleft lip/palate or diabetes

79
Q

A somatic cell that does not containa multiple of 23 chromosomes

A

Aneuploidy

80
Q

Three copies of one chromosome

A

Trisomy

81
Q

What is usually seen with aneuploidies?

A

Anomalies

82
Q

How many births does down syndrome effect?

A

1/800

83
Q

Risk for down syndrome child at age 20

A

1/2000

84
Q

Risk for down syndrome child at age 49

A

1/12

85
Q

Chromosome 21 has three copies instead of two

A

Down syndrome

86
Q

What is the mortality rate like in down syndrome children?

A

High

87
Q

What are other problems that are associated with down syndrome?

A

Heart problems, club foot, cleft palate of lip, colon enlargement, wide space between 1st and 2nd toes, and dental problems

88
Q

Testing for down syndrome

A

Prenatal ultrasound, AFP, amniocentesis

89
Q

When do you do AFP test?

A

15-20 weeks

90
Q

Disorder that is present at birth

A

Congenital disorder

91
Q

When do congenital disorders occur?

A

When developing embryo is subjected to adverse environmental conditions

92
Q

When is the period of vulnerability with congenital disorders?

A

15-60 days

93
Q

What can happen when babies are born to cocaine addicted mothers?

A

Baby can be born addicted

94
Q

Why is folic acid deficiency dangerous?

A

Folic acid helps form RBCs and produce DNA

95
Q

TORCH-T

A

Toxoplasmosis

96
Q

TORCH-R

A

Rubella

97
Q

TORCH-C

A

Cytomegalovirus

98
Q

TORCH-H

A

HSV2

99
Q

Adenine + Guanine

A

Purine bases

100
Q

Thymine + Cytosine

A

Pyrimidine bases

101
Q

How many chromosomes in the haploid nucleus?

A

23

102
Q

How many pairs in the diploid nucleus?

A

23

103
Q

What are some main SE of Von Willebrand disease?

A

Prolonged nosebleeds, heavy periods, prolonged bleeding after surgery

104
Q

What kind of diet so PKU people need?

A

Limited phenylalanine often found in proteins

105
Q

What organs are most often effected by sickle cell?

A

Kidney and spleen

106
Q

Caused by lack of clotting factor 11

A

Hemophilia C

107
Q

How is hemophilia diagnosed?

A

Measuring the level of factor activity in the blood

108
Q

Should people with hemophilia avoid aspirin?

A

Yes because it effects clotting

109
Q

Down syndrome where some cells have 47 chromosomes and some have 46

A

Mosaicism

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