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DNA & Genetics > Second half of Module 2 > Flashcards

Second half of Module 2 Flashcards

1
Q

Autosomal Dominant

A

Doesn’t skip generations, male to male transmission, affected children have one affected parent

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2
Q

Autosomal Recessive

A

Skips generations, male to male transmission, affected children are born to unaffected parents

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3
Q

X-linked dominant

A

Doesn’t skip generations, no male to male transmission, more males will have it

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4
Q

X-linked Recessive

A

Skips generations, more females than males, no male to male transmission

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5
Q

Y-linked

A

All males, affected fathers give it to all their sons

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6
Q

Doesn’t skip generations?

A

Dominant

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7
Q

Skips generations?

A

Recessive

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8
Q

What your gene SAYS?

A

Genotype

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9
Q

What your gene IS; physical traits?

A

Phenotype (blonde hair, blue eyes)

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10
Q

3 DNA samples?

A

Mother’s blood, Ameocentisis, chorionic Villus Sampling

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11
Q

Pulls out amniotic fluid from mother, usually do it between 15-18 weeks?

A

Ameocentisis

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12
Q

Pulls of part of the placenta through the vagina at about 10-12 weeks?

A

Chorionic Villus Sampling

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13
Q

Genetic Testing?

A

Ameocentisis, Chorionic Villus Sampling, Prenatal Testing, Pre-implication, karyotyping

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14
Q

What is Turner’s disease?

A

chromosomal condition that affects development in females

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15
Q

When there is only 1 X-chromosome present and has abnormalities in the fetus?

A

Turner’s Disease

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16
Q

What disease was discovered by Dr. Henry Turner? What year?

A

Turner’s Disease in 1938

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17
Q

Not recognized as a chromosomal abnormality until 1960?

A

Turner’s Disease

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18
Q

Occurs 1 in 5000 births?

A

Turner’s Disease

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19
Q

Identified by Warren Tay, in what year?

A

1881

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20
Q

Cherry red spot on the eye?

A

Tay-Sach’s Disease

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21
Q

Tay-Each’s Disease affects what enzyme?

A

Beta-Hexosaminidase

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22
Q

Where is Beta-Hexosaminidase located?

A

In the lysosomes

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23
Q

What does Beta-Hexosaminidase break down?

A

GM2 Ganglioside

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24
Q

What inheritance is Tay-Sach’s Disease?

A

Autosomal Recessive

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25
Q

Tay-Each’s Disease is on what chromosome? What is it Loci?

A

Chromosome 15 on Loci 15q23

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26
Q

If a low or even absence of Beta-Hexosaminidase A what is the disease?

A

Beta-Hexosaminidase

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27
Q

Commonly found in people of ashkenazi Jewish Heritage, french-canadiana communities of Quebec, and the Cajun people of Louisiana

A

Tay-Sach’s Disease

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28
Q

Was discovered by Dr. Asbjorn Folling in what year?

A

PKU in 1934

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29
Q

How did PKU come about?

A

The doctor tested two children that were mentally deficient and had a weird urine smell

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30
Q

What did the children’s urine consist of?

A

Phenylpyrivuc Acid

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31
Q

Inherited metabolic disorder?

A

PKU

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32
Q

What metabolites does PKU produce?

A

Intellectual disability, delayed development, behavioral and emotional and social problems, poor bone strength, hyperactivity, small head

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33
Q

Build of amino acid called phenylalanine?

A

PKU

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34
Q

What plays a role in the amino acids that plays an effect on proteins that help make thymine which helps with brain improvement?

A

Phenylalanine

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35
Q

What inheritance is PKU?

A

Autosomal Recessive

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36
Q

PKU is located on what chromosome? What is it’s loci?

A

Chromosome 12 loci 12q22-124.1

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37
Q

Affects 1 in 10,000 or 1 in 20,000 depending on country and origin?

A

PKU

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38
Q

The medications Kuvan and LNAA is are for what disease?

A

PKU

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39
Q

Meat, fish, poultry, egg, cheese, milk, tired peas, and beans are suppose to be avoided by what disease?

A

PKU

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40
Q

What disease requires a strict diet?

A

PKU

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41
Q

George Huntington discovered what disease in what year?

A

Huntington’s Disease in 1972

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42
Q

Irritability, depression, small involuntary movements, poor coordination, trouble making decisions, jerking and twitching all over their body happens in adult-onset

A

Huntington’s Disease

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43
Q

Life expectancy after receiving symptoms of Huntington’s Disease?

A

15 to 20 years

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44
Q

Two types of Huntington’s Disease?

A

Adult-onset and juvenile form

45
Q

Symptoms are the same as adult type but include slowed movements, spurred speech, and drooling?

A

Juvenile Form

46
Q

Life expectancy of children with Huntington’s Disease who begin the symptoms?

A

10 to 15 years

47
Q

inheritance of Huntington’s Disease?

A

Autosomal Dominant

48
Q

CAG trinucleotide reacts in the HTT gene in what disease?

A

Huntington’s Disease

49
Q

Huntington’s Disease is located on what chromosome?

A

Chromosome 4

50
Q

What disease occurs from CAG multiples 36-120 times?

A

Huntington’s Disease

51
Q

The Royal Disease?

A

Hemophilia

52
Q

Dr. John Conrad Otto discovered which disease in what year?

A

Hemophilia in 1803

53
Q

Queen Victoria was a carrier of what disease?

A

Hemophilia

54
Q

Two types of Hemophilia?

A

Mild & severe

55
Q

Experience bleeding only after serious injury, trauma or surgery? With spontaneous bleeding episodes

A

Mild Hemophilia

56
Q

Experience bleeding right after injury and have frequent and spontaneous bleeding episodes

A

Severe Hemophilia

57
Q

Hemophilia A & B are located on what chromosomes?

58
Q

______ causes the gene to not be able to produce a sufficient amount of proteins related to blood clotting.

A

Hemophilia

59
Q

Hemophilia is what inheritance?

A

X-linked Recessive

60
Q

400,000 people affected by this disease worldwide?

A

Hemophilia

61
Q

Carl Muller discovered this disease in what year?

A

Familial Hypercholesterolemia in 1938

62
Q

Produces high blood cholesterol and myocardial infarctions in your people?

A

Familial Hypercholesterolemia

63
Q

What does Familial Hypercholesterolemia create in the bloodstream?

A

LDL – bad type of cholesterol

64
Q

Gene mutated in Familial Hypercholesterolemia?

A

Chromosome 19

65
Q

Mode of inheritance for Familial Hypercholesterolemia?

A

Autosomal Dominant

66
Q

What is the loci for Familial Hypercholesterolemia?

67
Q

Xanthomas on your skin and corneal arcus can help determine what disease?

A

Familial Hypercholesterolemia

68
Q

Diet and exercise can help this disease?

A

Familial Hypercholesterolemia

69
Q

Trisomy 21?

A

Down Syndrome

70
Q

Dr. John Langdon Down discovered what disease in what year?

A

Down Syndrome in the 1800’s

71
Q

When a person has 2 21st chromosomes?

A

Down Syndrome

72
Q

What does Down Syndrome cause?

A

Mental Retardness

73
Q

Translocation occurs in what disease by 4%?

A

Down Syndrome

74
Q

Women over 40 have a 60% greater chance of having a child with what disease?

A

Down Syndrome

75
Q

1 in 1000 people are affected with _____?

A

Down Syndrome

76
Q

Diagnosed by Dorothy Andersen what year?

A

Cystic Fibrosis in 1938

77
Q

Found what disease by looking at a child killed by celiac disease?

A

Cystic Fibrosis

78
Q

Cystic Fibrosis is located on what chromosome?

79
Q

CFTR gene causes what to happen in the respiratory and GI tract?

A

Mucus build up

80
Q

Those diagnosed with CF experience thick build up of ____ in the _____?

A

Mucus; lungs

81
Q

CF is what mode of inheritance?

A

Autosomal Recessive

82
Q

Locus Position for CF?

83
Q

CF is diagnose with younger children and at most by age ____?

84
Q

Most common in what ancestry?

85
Q

Dr. John Wasmuth discovered what disease in what year?

A

Achondroplasia Dwarfism in 1994

86
Q

Without cartilage formation?

A

Achondroplasia Dwarfism

87
Q

Achondroplasia Dwarfism is what mode of inheritance?

A

Autosomal Dominant

88
Q

80% is caused by spontaneous mutation?

A

Achondroplasia Dwarfism

89
Q

Achondroplasia Dwarfism have what affects?

A

Shortened arms & legs, enlarged heads, prominent foreheads, trident fingers

90
Q

Achondroplasia Dwarfism results from a mutation in what gene?

91
Q

Achondroplasia Dwarfism is located of what chromosome?

92
Q

There is a change in one base part where a guanine is suppose to be there by codes as a adenine

A

Achondroplasia Dwarfism

93
Q

1 in 15,000 to 1 in 35,000 are affected

A

Achondroplasia Dwarfism

94
Q

Discovered by Dr. Burril B Crohn in what year?

A

1932; Crohn’s Disease

95
Q

Affects the digestive tract which ranges from the mouth to the rectal area?

A

Crohn’s Disease

96
Q

Located on get IL23R and on what chromosome?

A

Crohn’s Disease; 5 and 10

97
Q

LBD5 and LBD6 are what loci of a disease?

A

Crohn’s Disease

98
Q

Inheritance for Crohn’s Disease?

A

Autosomal Recessive

99
Q

Missing both copies of one of the chromosomes

100
Q

Missing 1 chromosome

101
Q

Having 3 copies of a chromosome

102
Q

Have 4 copies of a chromosome

103
Q

Caused by nondisjunction during meiosis

A

Aneuploidy

104
Q

Having 2 or more sets of chromosomes

A

Polyploidy

105
Q

Familial Down Syndrome?

A

Translocation

106
Q

Individual has normal cell and cells with trisomy 21

107
Q

Errors in mitosis

A

Tetraploidy

108
Q

Due to dispermy

DNA & Genetics (2 decks)

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