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Genetics > Lecture 11 > Flashcards

Lecture 11 Flashcards

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Biology 101 flashcards
1
Q

Why do pedigrees?

A

Punnett squares work well for organisms that have large numbers of offspring and controlled matings

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2
Q

human pedigrees

A

small families, uncontrolled matings often with heterozygotes, failure to truthfully identify parentage

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3
Q

Goals of pedigree analysis

A
  1. determine the mode of inheritance dominant, recessive, partial dominance, sex linked, autosomal, mitochondrial and maternal effect
  2. Determine the probability of an affected offspring for a given cross
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4
Q

If two affected people have an unaffected child will the pedigree be dominant or recessive?

A

dominant

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5
Q

If two unaffected people have an affected child, is it dominant or recessive?

A

recessive

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6
Q

If the affected person has an affected pattern is it dominant or recessive?

A

dominant

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7
Q

define pre-implantation genetic diagnosis

A

A test to check whether the fertilized egg has had the genetic disorder passed on

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8
Q

Define Guthrie Test

A

bacterial inhibition assay- test performed on newborn infants to detect PKU, an inborn error of amino acid metabolism

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9
Q

In recent years, what has happened with the Guthrie Test?

A

gradually being replaced in many areas with tandem mass spectrometry that can detect a wider variety of congenital diseases

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10
Q

What is hearing loss mostly due to?

A

congenital issues

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11
Q

How is the Guthrie test done?

A

blood from heal of the newborn is placed on filter paper then placed on agar plate with a strain of Bacillus subtilis

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12
Q

Define Diagnostic tests

A

invasive prenatal diagnosis

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13
Q

Define fetoscopy

A

involves visualization of the fetus by means of endoscope

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14
Q

What is fetoscopy being superseded by?

A

detailed ultrasonography

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15
Q

Define fluorescent in situ-hybridization

A

diagnostic tool combines conventional cytogenetics with molecular genetic technology- based on unique ability of a portion of ss DNA to anneal with its complementary target sequence

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16
Q

What is fluorescent in-situ hybridization useful for?

A

diagnosing various developmental disorders like Prader-Willi syndrome, Angelman syndrome and Down Syndrome

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17
Q

What do raised levels of alpha fetoprotein indicate?

A

open neural defect

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18
Q

What does low level of alpha fetoprotein indicate?

A

chromosomal aberrations (trisomy 21 causing down syndrome)

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19
Q

what effects may some pharmacogenetics have?

A

adverse effects may develop/toxic reactions due to genetically determined enzyme deficiencies

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20
Q

Define pharmacokinetics

A

movement of drug from the time of absorption into body- plasma concentration, tissue distribution, metabolism/detoxification in liver and then elimination from body (input to output)

21
Q

Define pharmacodynamics

A

interaction of drugs with membrane receptors, enzymes, nucleic acids and exertion of their pharmacological effect

22
Q

WHat is succinlycholine sensitivity?

A

short acting muscle relaxant used in general anesthesia- inactivated by plasma cholinestrase within 2-3 minutes

23
Q

What happens in certain ethnic groups with succinlycholine?

A

the plasma cholinestrase is defective and succinylcholine is inactivation very slowly resulting in prolonged apnea

24
Q

Mutation of which gene is responsible for succinlycholine sensitivity?

A

mutation of gene CHE1

25
Q

What is Glucose -6 phosphate dehydrogenase?

A

X linked recessive- in which the anti-malarial drug Primaquine causes hemolytic anemia

26
Q

What other drugs cause hemolysis?

A

phenacetin, nitrofurantoin and sulfonamides

27
Q

What do fava beans cause?

A

favism

28
Q

What ethnic groups is glucose 6 phosphate dehydrogenase common?

A

afro caribbean descendants and persons of middle eastern origin- not common in caucasian

29
Q

What is coumarin anticoagulants used for?

A

in treatment of deep vein thrombosis

30
Q

What is coumarin anticoagulants ?

A

drug metabolized by cytochrome P450 located on chromosome 10

31
Q

What does mutation of gene with coumarin anticoagulants cause?

A

leads to decreased metabolism of the drug and hence individuals require lower dose of above drugs

32
Q

What is malignant hyperthermia?

A

a rare complication of general anesthesia where halothane was used- patients develop high fever- autosomal dominant

33
Q

What should MH be treated with?

A

cooling and IV procaine or dantrolene

34
Q

Mutation is which gene is responsible for MH?

A

RYR1 gene

35
Q

What is alcohol metabolism?

A

alcohol is metabolized in liver by alcohol dehyrogenase enzyme to acetaldehyde which degrades acetaldehyde dehydrogenase

36
Q

What ethnic group tolerates alcohol well?

A

Caucasians

37
Q

What ethnic group does not tolerate alcohol well?

A

East Asians- develop flushing reaction

38
Q

What is chronic granulomatous disease due to?

A

Due to enzyme NADPH oxidase deficiency which is essential for productin of H2O2 during phagocytosis - ingested microbes are not killed

39
Q

What is treatment for CGD?

A

antibiotics and interferon are treatment - chemoprophylaxis with trimethoprim and sulfamethoxazole can reduce infections

40
Q

Can you have recurrent infections with CGD?

A

YES

41
Q

What is Bruton’s agammaglobulinemia

A

X linked disorder, more common in young boys- individuals do not generate mature B cells leading to virtual absence of B cells resulting in lack of antibodies in blood

42
Q

Where is the mutation in Bruton’s agammaglobulinemia?

A

mutation in gene encoding tyrosine kinase- a signal transduction protein

43
Q

What recurrent infections will you have with Bruton’s agammaglobulinemia?

A

recurrent respiratory infections with strep pneumonia/Hem influenza in childhood

44
Q

Medication for Bruton’s agammaglobulineamia

A

intravenous infusion of immunoglobulin every 3-4 weeks for life

45
Q

What is hyper IgM syndrome due to?

A

failure of class switching from IgM production to other classes of antibiotics

46
Q

Are the number of T cells and B cells normal in someone with hyper IgM?

A

YES

47
Q

What is defective in someone with hyper IgM?

A

gene encoding CD40 ligand of CD4 +ve helper T cell is defective, which prevents class switching

48
Q

What recurrent infection is possible with Hyper IgM?

A

bacterial pyogenic infections like in bruton’s

49
Q

What is defective in severe combined immunodeficiency syndrome?

A

Both T cells and B cells, tonsils and lymph nodes absent, immunoglobulins are very low

Genetics (12 decks)

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