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Genetics Flashcards

1
Q

There are over ____ known genetic diseases

A

8000

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2
Q

The life years lost from birth defects due to genetic causes is ___ times that from cancer and ___ that from heart disease

A

3.5 ; 6.5

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3
Q

What is pharmacogenomics?

A

The study of how inherited genetic differences in humans influence individual response to drugs

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4
Q

What is polymorphism?

A
  • Genes that have more than one normal allele at the same locus
  • Same amino acid, different protein
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5
Q

Genes that encode the beta-adrenergic receptor has __ different single nucleotide polymorphisms. Why is this important?

A

18 ; This can alter response of an individual to a beta-blocker

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6
Q

There are over _____ single nucleotide polymorphisms (SNPs) in the human genome

A

1.4 million

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7
Q

In 2004, information about pharmacogenomics began to appear on drug labels. Why?

A
  • The product labels either require or recommend genetic testing, or point to influence of genetics on drug response/safety
  • Highlights awareness of genetic variability of polymorphic enzymes that metabolize drugs
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8
Q

It is believed that testing for certain polymorphisms before prescribing certain drugs could help …

A

avoid adverse drug reactions and improve efficacy

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9
Q

In 1995 only __ companies were developing gene therapies. Now, there are over ___.

A

44; 190

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10
Q

Do drugs cure genetic diseases?

A

Not necessarily at present, but they do improve the quality of life. It is believed that genetic technology will be available in the 21st century that will treat diseases.

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11
Q

Can drugs cure diseases in general?

A

Some, but most just improve quality of life

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12
Q

What is co-dominance?

A

To be co-dominant, both allele members of a gene pair are expressed in the heterozygote. Example: AB Blood type

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13
Q

What is a hemizygote?

A

An individual, organism, or cell that has only one allele for a specific characteristic. (ie Men only have 1 X chromosome)

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14
Q

What is penetrance?

A

Statistical term, refers to the percentage of individuals with a specific genotype who also exhibit the expected genotype. Full penetrance = expression

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15
Q

How many genotypes for blood are there? Phenotypes?

A 
6 genotypes (AA, AO, BB, BO, AB, OO)
4 phenotypes (A, B, AB, O)
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16
Q

What is the frequency of cytogenetic defects in conceptions? Live birth? Why the difference?

A

Conceptions: 1 in 12
Live biths: 1 in 150
Lower frequency in live births because the defects often cause miscarriages

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17
Q

50% of all spontaneous abortions have _________

A

a chromosomal abnormality

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18
Q

Are cytogenetic diseases inherited?

A

They are usually NOT inherited

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19
Q

What is an aneuploid cell?

A

A somatic cell that does not contain a multiple of 23 chromosomes

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20
Q

Aneuploidy is the result of _______

A

Nondisjunction

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21
Q

What is nondisjunction?

A

Nondisjunction is the failure of chromosome pairs or sister chromatids to separate properly during cell division

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22
Q

Diagnosis of cytogenetic defects are usually made by _________

A

physical signs associated with the phenotype

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23
Q

How do you confirm diagnosis of cytogenetic defects?

A

Karyotype –> take a blood sample

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24
Q

Cytogenetic abnormalities of sex chromosomes are (more or less?) common than autosomal abnormalities

A

More

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25
Q

What causes cri-du-chat?

A

Partial deletion of p arm of chromosome 5

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26
Q

What are the symptoms of cri-du-chat listed in the powerpoint?

A
  • 50% have cardiovascular abnormalities

- Mental (IQ ~20) and growth retardation

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27
Q

What is the frequency of cri-du-chat?

A

1 in 50,000 births

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28
Q

What causes Turner syndrome?

A

No homologous X or Y chromosome

Just have X

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29
Q

What is the frequency of Turner syndrome?

A

1 in 2500 live births (99% aborted according to slide)

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30
Q

Those with turner syndrome are phenotypically (male or female?)

A

Female

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31
Q

What symptoms are listed of people with Turner syndrome?

A

Sterile, short stature, webbed neck, 35% have cardiovascular abnormalities

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32
Q

Would Turner syndrome be recognized at birth?

A

Not necessarily - moreso at puberty

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33
Q

How is Turner syndrome treated if diagnosed early?

A

Treated with growth hormone and estrogen

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34
Q

How does the body compensate for the lack of a second sex chromosome in Turner syndrome?

A

Transcription level on remaining X chromosome is upregulated

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35
Q

In what disorder do individuals have male pattern for x-linked disorders?

A

Turner syndrome

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36
Q

Patients with turner syndrome may have ______ learning disabilities

A

non-verbal

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37
Q

Turner syndrome individuals are more susceptible to other conditions, such as…

A

metabolic syndrome, hypertension, CAD (coronary artery disease), and osteoporosis

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38
Q

Sex chromosome additions are ____ severe than autosomal additions

A

Less

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39
Q

What is Klinefelter’s syndrome?

A

Addition of an X chromosome. (XXY)

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40
Q

What is the frequency of Klinefelter’s syndrome?

A

1/500 to 700

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41
Q

Those with Klinefelter’s syndrome are phenotypically…

A

Male

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42
Q

What symptoms are listed for those with Klinefelter’s syndrome?

A

Sterile, small testicles, sparse body hair, gynecomastia (possible breast formation), Tall, Abdominal adiposity, osteoporosis, varicose veins, autoimmune diseases, increased risk for breast cancer and other cancers

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43
Q

What is the most common cytogenetic disorder?

A

Klinefelter’s syndrome

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44
Q

What percentage of babies with Klinefelter’s syndrome are diagnosed at birth?

A

Less than 10%.

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45
Q

What fraction of people with Klinefelter’s syndrome will go undiagnosed?

A

2 out of 3

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46
Q

A human would not survive without a _ chromosome

A

X. Have to have at least one

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47
Q

What causes Trisomy 21?

A

An additional copy of chromosome 21 (3 copies total)

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48
Q

What is the frequency of Trisomy 21?

A

1/750 births

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49
Q

Trisomy 21 results in over ___ physical abnormalities

A

200

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50
Q

What symptoms are listed for those with Trisomy 21?

A

Mental retardation, Short stature, Hypotonia (muscles are flaccid), depressed immune system, simian crease (line in hand - see slide) in 30% of cases, 50% cardiovascular abnormalities, characteristic facial features, and increased susceptibility for leukemia, thyroid disease, and alzheimers

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51
Q

Risk of trisomy ________ with advancing age

A

Increases
Age 19 - 1/2300
Age 45+ - 1/100

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52
Q

73% of Down’s syndrome infants are born to women of what age?

A

Below 35 years of age

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53
Q

3% of Trisomy 21 cases are due to ________, 97% due to _________.

A

3% Translocation (can be inherited)

97% Nondisjunction

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54
Q

1 to 3% of Trisomy 21 patients are _____, meaning what?

A

Mosaic; symptoms are less severe

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55
Q

In Trisomy 21, where is the third chromosome located?

A

Attached to chromosome 14

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56
Q

Can you diagnose Single Gene Defect diseases with karyotype?

A

No, because you have all of your chromosomes

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57
Q

What is the frequency of Single Gene Defect diseases?

A

1-3% of live births

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58
Q

Autosomal dominate Single Gene Defect diseases usually involve some _______ gene

A

Structural

59
Q

Marfan’s syndrome is a(n) ______________ disorder.

A

Autosomal dominant

60
Q

What is familial hypercholesterolemia?

A

Single Gene Defect Disorder caused by a gene defect on chromosome 19.

61
Q

Familial hypercholesterolemia is characterized by lack of a ____________ so there is an increased synthesis of __________.

A

LDL (low density lipoprotein) Surface receptor

Increased synthesis of LDL (much more cholesterol, leads to more plaque)

62
Q

Familial hypercholesterolemia: Heterozygote plasma cholesterol is ____ fold higher than normal (___ to ____ mg/dl)

A

2-3 fold higher, 300-400 mg/dl

63
Q

Familial hypercholesterolemia: Homozygote plasma cholesterol is ____ fold higher than normal (___ to ____ mg/dl)

A

5 fold higher, 600-1200 mg/dl

64
Q

Familial hypercholesterolemia: Homozygotes usually die from ________ as a teen

A

Coronary artery disease

65
Q

Is familial hypercholesterolemia a candidate for gene therapy?

A

Yes, it has been done, a viral vector is used so LDL receptor is made

66
Q

Defects on autosomal recessive genes usually affect _______

A

enzymes

67
Q

What is PKU?

A

Phenylketonuria; problem on chromosome 12

68
Q

What is the frequency of PKU?

A

1/15000 live births

69
Q

Those with PKU have a deficiency in their __________, which causes what?

A

Phenylalanine hydroxylase, causes an accumulation of phenylalanine which leads to CNS damage (and mental retardation)

70
Q

What treatment is available for those with PKU?

A

Diet low in phenylalanine

71
Q

Why does PKU cause CNS damage?

A

Defective myelination of gray and white matter, disturbance in cortical lamination

72
Q

What is the most common LETHAL single autosomal recessive defect in North America?

A

Cystic Fibrosis

73
Q

What is the frequency of cystic fibrosis?

A

1/3200 live births. 25-35000 people in the US have it

74
Q

Cystic fibrosis is the result of a defect in ____, which is caused by an error in codon ___ of a ____ aa protein

A

CFTR: Cystic fibrosis transmembrane conductance regulator

codon 508 of a 1480 aa protein

75
Q

Is cystic fibrosis a respiratory disease?

A

No, an exocrine disorder - exocrine glands have a disfunction, releases thick mucus

76
Q

What is the sweat test for Cystic Fibrosis?

A

Ring of salt on child’s forehead is tested for high chloride levels

77
Q

How do people with CF get treated (in terms of absorbing nutrients)?

A

They are given a packet of enzymes when they eat so they can absorb nutrients

78
Q

What are polygenetic diseases?

A

Diseases caused by multiple genes. Pattern of disease cannot be predicted because it is the cooperation of many genes and environmental risk factors.

79
Q

What are teratogenic diseases?

A

Diseases that develop during the embryonic period of development (weeks 2-8 after conception, during organogenesis)

80
Q

Environmental agents that cause teratogenic diseases are: _____, _____, ____, and ______ (_____)

A

Radiation, chemicals, drugs, infection (TORCH)

81
Q

What does TORCH stand for?

A

Toxoplasmosis, other, rubella, cytomegalovirus, herpes

infections that can cause teratogenic disease

82
Q

Over __________ births in the US have defects and over _________ infant deaths, spontaneous abortions, still births and miscarriages

A

120000; 600000

83
Q

What is congenital rubella syndrome?

A

An example of a teratogenic disease, an intrauterine infection, occurs if the mother contracts rubella during her first trimester

84
Q

What is the mode of action for thalidomide?

A

Reduce TNF alpha, a cytokine (important in inflammatory response). This reduced inflammatory response and blood vessel growth arrested, which blocked limb formation in babies.

85
Q

What are the clinical signs/syndromes associated with Fetal Alcohol Syndrome? (3 major categories)

A

(a) craniofacial (ie small chin, small head (microencephaly), absence of ridges between nose and upper lip)
(b) Growth (small for gestational age, 2 standard deviations below the mean - NO post natal catch up growth)
(c) CNS Abnormalities (poor coordination, mild to moderate mental retardation)

86
Q

What is the most known teratogenic cause of mental deficiency in the western world?

A

Fetal alcohol syndrome

87
Q

How has the incidence of fetal alcohol syndrome changed over time?

A

1979 - 1:10,000
1996: 6-7:10,000
However this could also be because in 1989 they put a checkbox on birth certificate, so they may not have been accounted for before this

88
Q

The highest incidence of fetal alcohol syndrome occurs in….

A

American Indians, 9-10:10,000

89
Q

What is the possible pathogenesis of fetal alcohol syndrome?

A

Decrease in protein synthesis
(zinc deficiency?)
NOT malnutrition! can not see catch up patterns in growth

90
Q

What is the frequency of Alcohol Related Birth Defects (ARBD)?

A

1 in every 1000 births have some of the characteristics of FAS

91
Q

What amount of alcohol is okay for the fetus during prgenancy?

A

NO AMOUNT of alcohol is safe for the fetus during pregnancy

92
Q

Most significant link to damage from FAS is found in the first __ to __ weeks of pregnancy, however specific abnormalities have been linked to drinking in later weeks

A

7 to 12

93
Q

Teratogens can cause birth defects in what 3 ways?

A

Direct exposure to mother and fetus
Exposure to mother prior to pregnancy (of agent that is retained during pregnancy)
Mutagenic effects from an environmentsl agent that takes place before pregnancy and effects reproductive cells

94
Q

FDA has established a system to classify drugs according to risk to fetus.
What does A mean?

A

Adequate and well-controlled studies have failed to demonstrate a risk to the fetus in
the first trimester of pregnancy (and there is no evidence of risk in later trimesters).

95
Q

FDA has established a system to classify drugs according to risk to fetus.
What does B mean?

A

Animal reproduction studies have failed to demonstrate a risk to the fetus and there
are no adequate and well-controlled studies in pregnant women.

96
Q

FDA has established a system to classify drugs according to risk to fetus.
What does C mean?

A

Animal reproduction studies have shown an adverse effect on the fetus and there
are no adequate and well-controlled studies in humans, but potential benefits may
warrant use of the drug in pregnant women despite potential risks.

97
Q

FDA has established a system to classify drugs according to risk to fetus.
What does D mean?

A

There is positive evidence of human fetal risk based on adverse reaction data from
investigational or marketing experience or studies in humans, but potential benefits
may warrant use of the drug in pregnant women despite potential risks.

98
Q

FDA has established a system to classify drugs according to risk to fetus.
What does X mean?

A

Studies in animals or humans have demonstrated fetal abnormalities and/or
there is POSITIVE EVIDENCE of human fetal risk based on adverse reaction data
from investigational or marketing experience, and the risks involved in use of the drug
in pregnant women clearly outweigh potential benefits.

99
Q

FDA has established a system to classify drugs according to risk to fetus.
What does N mean?

A

FDA has not classified the drug.

100
Q

What are the two most common disorders that can be detected during pregnancy?

A

Down’s Syndrome and Neural tube closure defects (includes spina bifida and anencephaly - open spine disorders)

101
Q

What is the frequency of Neural tube closer defects?

A

~1500 births/yr in US, 4000 contraceptions/yr, NTD affects more than 300,000 babies/yr globally

102
Q

__% of all NTD-specific deaths occurred in the first __ hours of life

A

76%, 23 hours of life

103
Q

What are the risk factors for NTD?

A

Hyperthemia (higher temps) in early development, radiation, both maternal cigarette smoking and maternal exposure to secondhand smoke

104
Q

What do homocysteine levels have to do with NTD?

A

Women with NTD pregnancies have higher levels of homocysteine

105
Q

Why did cereal in the US begin being fortified with folic acid?

A

Folic acid helps prevent NTD. Since fortifying cereal with folic acid, the incidence of NTD has reduced 50-70%. They fortified cereal because cereal-grain products are consumed on a daily basis by >90% of women of childbearing age.

106
Q

True or False: There is an increased recurrence risk if a woman has a second child if the first has NTD

A

True

107
Q

How many women know they should be consuming folic acid? (2007 data)

A

81%

108
Q

How many women are actually taking folic acid? (2007 data)

A

40%

109
Q

What’s the recommended daily amount of folic acid women of childbearing age should be consuming?

A

0.4 mg

110
Q

Risk of children born with cleft lip and palate is __ higher in babies whose mothers did not take folic acid during first trimester of pregnancy.

A

4X

111
Q

There is a _ to _ fold increase in incidence of NTD if increased body temperature over __ degrees F during first 6 weeks of pregnancy

A

100 degrees F (don’t get in a hot tub!)

112
Q

How is AFP used to diagnose NTD?

A

If the fetus has an open neural tube defect (NTD), AFP is thought to leak directly into the amniotic fluid causing unexpectedly high concentrations of AFP.

113
Q

How many SD is the concentration of AFP above the mean in women whose infants have NTD?

A

Greater than 4-5 standard deviations above the mean

114
Q

What is the purpose of prenatal diagnosis of genetic disorders, besides detection?

A
  1. Provide patients with information/resources
  2. Provide reassurance and reduce anxiety in high risk groups
  3. Allow parents who are at risk and fearful to start a pregnancy with assurances that disorders can be confirmed by testing
  4. Possibility of medical/surgical interventions during pregnancy
115
Q

What tests can be performed in the first trimester to detect genetic disorders? (4)

A
  • Maternal blood sample
  • Visualization of fetus (ultrasound)
  • Sample of amniotic fluid and cells
  • Sampling fetal blood serum and tissue
  • Chorionic villi sampling (CVS)
116
Q

Cell free DNA testing (also known as maternal blood sampling) can detect several chromosomal defects __% of the time, with a false positive rate of less than __%

A

98%; 0.5%

117
Q

What is the quad screen test? What does it test for?

A

A maternal blood sample test. Quad screen tests for alpha fetoprotein (afp), human chorionic gonadotropins (hCG), inhibin-A, and unconjugated estriol

118
Q

Where is alpha fetoprotein (AFP) produced? When does it start to rise? When does it peak in fetal blood? When does it peak in maternal blood? What does HIGH AFP indicate? What does LOW AFP indicate?

A
  • From fetal liver
  • Starts to rise in week 13
  • Peaks in fetus weeks 12-15
  • Peaks in maternal blood at 32 weeks
  • High suggests NTD
  • Low suggestive for Trisomy 21
119
Q

Where is unconjugated estriol produced? What do the results suggest?

A
  • Produced in fetus and placenta

- Low is suggestive for trisomy 21

120
Q

When are the quad/triple screen test performed?

A

15-18th week of gestation

121
Q

Where is human chorionic gonadotropins (hCG) produced? What does it suggest?

A
  • Placenta

- High is suggestive for Trisomy 21

122
Q

If you combine all three markers from the triple screen test, it can detect up to __% of all Trisomy 21 cases. This leads to a _______ for confirmation.

A

60%; level 2 ultrasound

123
Q

Where is inhibin-A produced? What do the results suggest?

A

Placenta and ovaries; high suggestive for trisomy 21

124
Q

If you have high results for all of the tests in the quad screen test, what could this suggest?

A

Multiple gestation (aka twins!)

125
Q

Besides trisomy 21 and NTD, what else can current blood tests detect?

A

Cystic fibrosis, sickle cell anemia, and thalassemia

126
Q

Why was home testing for NTD taken off the market after being tried in England?

A

Results led to a huge rise in (spontaneous?) abortions

127
Q

True or False: For most birth defects, there are no specific chromosomal or biochemical tests presently available

A

True

128
Q

Level 2 ultrasounds can detect __ to __% of chromosomal abnormalities? It can confirm most _____ and is done between weeks __ and __

A

11 to 35%; NTD; 16 and 18

129
Q

Amniotic fluid represents primarily ______ and contain cells sloughed off from ______, _____, and _____.

A

Fetal urine; skin, respiratory tract, and urinary tract

130
Q

When does sampling of amniotic fluid and cells occur? How long does it take to complete the test?

A

15-18th week, 2nd trimester; 2-3 weeks

131
Q

True or False: A normal amniocentesis test necessitates a normal child

A

False. 3-5% of live born babies have serious congenital anomalies and an additional 1-2% will develop mental retardation

132
Q

What are indications for amniocentesis testing?

A
  • Older than 35 years of age
  • Previous child with cytogenetic disorder, NTD, etc
  • Abnormal ultrasound finding
  • X linked carriers
    Heterozygote parent of autosomal recessive (biochemical) disorder
133
Q

What can amniocentesis test show?

A
  • Cytogenetic disorders
  • X-linked disorders
  • NTD (measures alpha fetoprotein)
  • Inborn errors of metabolism
    (would require more extensive testing)
134
Q

What is PUBS?

A

Percutaneous Umbilical Blood Sampling

135
Q

When do you sample PUBS? When do you get the results?

A

Usually sample after 16 weeks (2nd trimester); results within 48-72 hours

136
Q

What test can only be performed in the 1st trimester?

A

Chorionic villi sampling (CVS) (8-12th week)

137
Q

Can chorionic villi sampling test detect NTD and/or Trisomy 21?

A

T21 - Yes

NTD - No, alpha fetoprotein isnt high enough in the first trimester

138
Q

What is the most common type of genetic testing? Identified ___ children/yr in need of treatment

A

Newborn screening; 3400

139
Q

In 2007, only __ states and the District of Columbia required infants to be screened for all the recommended disorders. Today, __ states and the District of Columbia require screening for at least 29 of the 31 treatable core conditions.

A

10; 42

140
Q

What is the Newborn Screening Saves Lives Reauthorization Act?

A

It will renew federal programs that will provide support for state efforts to ensure that every newborn is tested for at least 31 conditions present at birth

141
Q

Florida now screens for __ conditions, including __ and for _______.
All states require screening of at least __ health conditions.

A

34; CF and hearing loss; 26

142
Q

National Institutes of Health (NIH) has funded grants to study the efficacy of in utero surgery in this patient population. Currently, __ centers are conducting this research: _____________

A

3; CHOP/University of Pennsylvania; Vanderbilt; and University of California, San Francisco.

143
Q

Almost ___ cases of intrauterine repair have been performed around the world.

A

330

144
Q

What is the “2-hit hypothesis” for NTD? What treatment did this lead to? How does this help?

A
  • Not only does NTD result from the neurulation defect that occurs during days 26-28 of gestation, but also secondary damage occurs when exposed neural tissue is in contact with amniotic fluid.
  • By covering the neural placode with skin in utero could theoretically decrease the damage inflicted to the exposed neural structures by amniotic fluid
  • In addition, the loss of cerebral spinal fluid (CSF) through the central canal may be halted by in utero closure of the neural placode, thereby reversing some of the potentially devastating neurologic sequelae of neural tube defects.

PBD (7 decks)

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