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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
Tay-Each's Disease is on what chromosome? What is it Loci?
Chromosome 15 on Loci 15q23
26
If a low or even absence of Beta-Hexosaminidase A what is the disease?
Beta-Hexosaminidase
27
Commonly found in people of ashkenazi Jewish Heritage, french-canadiana communities of Quebec, and the Cajun people of Louisiana
Tay-Sach's Disease
28
Was discovered by Dr. Asbjorn Folling in what year?
PKU in 1934
29
How did PKU come about?
The doctor tested two children that were mentally deficient and had a weird urine smell
30
What did the children's urine consist of?
Phenylpyrivuc Acid
31
Inherited metabolic disorder?
PKU
32
What metabolites does PKU produce?
Intellectual disability, delayed development, behavioral and emotional and social problems, poor bone strength, hyperactivity, small head
33
Build of amino acid called phenylalanine?
PKU
34
What plays a role in the amino acids that plays an effect on proteins that help make thymine which helps with brain improvement?
Phenylalanine
35
What inheritance is PKU?
Autosomal Recessive
36
PKU is located on what chromosome? What is it's loci?
Chromosome 12 loci 12q22-124.1
37
Affects 1 in 10,000 or 1 in 20,000 depending on country and origin?
PKU
38
The medications Kuvan and LNAA is are for what disease?
PKU
39
Meat, fish, poultry, egg, cheese, milk, tired peas, and beans are suppose to be avoided by what disease?
PKU
40
What disease requires a strict diet?
PKU
41
George Huntington discovered what disease in what year?
Huntington's Disease in 1972
42
Irritability, depression, small involuntary movements, poor coordination, trouble making decisions, jerking and twitching all over their body happens in adult-onset
Huntington's Disease
43
Life expectancy after receiving symptoms of Huntington's Disease?
15 to 20 years
44
Two types of Huntington's Disease?
Adult-onset and juvenile form
45
Symptoms are the same as adult type but include slowed movements, spurred speech, and drooling?
Juvenile Form
46
Life expectancy of children with Huntington's Disease who begin the symptoms?
10 to 15 years
47
inheritance of Huntington's Disease?
Autosomal Dominant
48
CAG trinucleotide reacts in the HTT gene in what disease?
Huntington's Disease
49
Huntington's Disease is located on what chromosome?
Chromosome 4
50
What disease occurs from CAG multiples 36-120 times?
Huntington's Disease
51
The Royal Disease?
Hemophilia
52
Dr. John Conrad Otto discovered which disease in what year?
Hemophilia in 1803
53
Queen Victoria was a carrier of what disease?
Hemophilia
54
Two types of Hemophilia?
Mild & severe
55
Experience bleeding only after serious injury, trauma or surgery? With spontaneous bleeding episodes
Mild Hemophilia
56
Experience bleeding right after injury and have frequent and spontaneous bleeding episodes
Severe Hemophilia
57
Hemophilia A & B are located on what chromosomes?
F8 and F9
58
______ causes the gene to not be able to produce a sufficient amount of proteins related to blood clotting.
Hemophilia
59
Hemophilia is what inheritance?
X-linked Recessive
60
400,000 people affected by this disease worldwide?
Hemophilia
61
Carl Muller discovered this disease in what year?
Familial Hypercholesterolemia in 1938
62
Produces high blood cholesterol and myocardial infarctions in your people?
Familial Hypercholesterolemia
63
What does Familial Hypercholesterolemia create in the bloodstream?
LDL -- bad type of cholesterol
64
Gene mutated in Familial Hypercholesterolemia?
Chromosome 19
65
Mode of inheritance for Familial Hypercholesterolemia?
Autosomal Dominant
66
What is the loci for Familial Hypercholesterolemia?
1p32
67
Xanthomas on your skin and corneal arcus can help determine what disease?
Familial Hypercholesterolemia
68
Diet and exercise can help this disease?
Familial Hypercholesterolemia
69
Trisomy 21?
Down Syndrome
70
Dr. John Langdon Down discovered what disease in what year?
Down Syndrome in the 1800's
71
When a person has 2 21st chromosomes?
Down Syndrome
72
What does Down Syndrome cause?
Mental Retardness
73
Translocation occurs in what disease by 4%?
Down Syndrome
74
Women over 40 have a 60% greater chance of having a child with what disease?
Down Syndrome
75
1 in 1000 people are affected with _____?
Down Syndrome
76
Diagnosed by Dorothy Andersen what year?
Cystic Fibrosis in 1938
77
Found what disease by looking at a child killed by celiac disease?
Cystic Fibrosis
78
Cystic Fibrosis is located on what chromosome?
7
79
CFTR gene causes what to happen in the respiratory and GI tract?
Mucus build up
80
Those diagnosed with CF experience thick build up of ____ in the _____?
Mucus; lungs
81
CF is what mode of inheritance?
Autosomal Recessive
82
Locus Position for CF?
7q31
83
CF is diagnose with younger children and at most by age ____?
2
84
Most common in what ancestry?
Europeans
85
Dr. John Wasmuth discovered what disease in what year?
Achondroplasia Dwarfism in 1994
86
Without cartilage formation?
Achondroplasia Dwarfism
87
Achondroplasia Dwarfism is what mode of inheritance?
Autosomal Dominant
88
80% is caused by spontaneous mutation?
Achondroplasia Dwarfism
89
Achondroplasia Dwarfism have what affects?
Shortened arms & legs, enlarged heads, prominent foreheads, trident fingers
90
Achondroplasia Dwarfism results from a mutation in what gene?
FGFR3
91
Achondroplasia Dwarfism is located of what chromosome?
4
92
There is a change in one base part where a guanine is suppose to be there by codes as a adenine
Achondroplasia Dwarfism
93
1 in 15,000 to 1 in 35,000 are affected
Achondroplasia Dwarfism
94
Discovered by Dr. Burril B Crohn in what year?
1932; Crohn's Disease
95
Affects the digestive tract which ranges from the mouth to the rectal area?
Crohn's Disease
96
Located on get IL23R and on what chromosome?
Crohn's Disease; 5 and 10
97
LBD5 and LBD6 are what loci of a disease?
Crohn's Disease
98
Inheritance for Crohn's Disease?
Autosomal Recessive
99
Missing both copies of one of the chromosomes
Nullisomy
100
Missing 1 chromosome
Monosomy
101
Having 3 copies of a chromosome
Trisomy
102
Have 4 copies of a chromosome
Tetrasomy
103
Caused by nondisjunction during meiosis
Aneuploidy
104
Having 2 or more sets of chromosomes
Polyploidy
105
Familial Down Syndrome?
Translocation
106
Individual has normal cell and cells with trisomy 21
Mosaicism
107
Errors in mitosis
Tetraploidy
108
Due to dispermy
Triploidy

DNA & Genetics (2 decks)

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