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Genetics Flashcards

0
Q

Haplotype

A

Combination of alleles at different loci that are transmitted together. Depends on number of recombination.

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1
Q

Fragile x syndrome

A

CGG repeat…CG gets methylated and results in FMR1 gene to have reduced expression. Combo of genetic duplication and epigenetic control.

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2
Q

Red green color blindness

A

Happens when there is unequal recombination. One red and gene and multiple green genes…these genes are 96 percent identical and can lead to faulty recombination. Lineup in prophase 1 meotic division inappropriately

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3
Q

Does number of genes and chromosome size relate to each other ?

A

Usually…but for example chromosome 4 is large but does not have that many genes

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4
Q

What are the three types of genetic variance that affect pharmacotherapy ?

A

1) proteins that affect metabolism (pharmacokinetics)
2) proteins that affect drug target (pharmacodynamics)
3) idiosyncratic adverse drug affects (interaction between drug and unique physiology of the patient)

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5
Q

Butyrlcholinesterase and genetic polymorphism

A

Breaks down anticholinesterase drug succinylcholine. That is why paralysis only lasts 5-10 min
…defect in the BCHE gene causes slower breakdown. Autosomal recessive

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6
Q

NAT2 and polymorphism (N-acety transferase)

A

Catalyzes acetylation of isoniazid. Homozygous recessive people are slow acylators and therefore are more prone to toxic affects due to higher drug concentration in the plasma if metabolism requires acetylation

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7
Q

Cyp2d6

A

Responsible for breakdown of antidepressants, anti arrhythmias, and analgesics…ultrarapids can have up to 13 copies of this gene. Ultra Rapids Break down drug too fast and usually require higher doses of drugs. codeine is opposite because it is a PRO DRUG that metabolizes into morphine so it can result in toxic amount and vis versa.

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8
Q

TPMT (THiopurine S-methyl transferase)

A

Methylates cancer drugs which inactivates them
…thiopurines have a small therapeutic index (anemia and life threatening myleosurpression)
-1/300 have polymorphism for low activity and therefore have to be given about 1/10 of the normal dose

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9
Q

Warfarin

A

Thin therapeutic window
-S warfarin is 3-5 times more potent than R warfarin
-metabolized differently. S = CYP2C9 (polymorphism leads to pharmokinetics)
-R= others
Pharmodynsmics = target vitamin K reductase

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10
Q

CYP2C9

A

Polymorphism that cause lower activity thus doses

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11
Q

Warfarin pharmodynamic effect

A

Gene VKROC1 codes for vitamin k reductase complex one. Changes the dosage you have to give to patients

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12
Q

What is the classical idiosyncratic genetic variance example ?

A

G6PD deficiency…this reduces a the amount of nadph produced therefore reduces the amount of oxidase stress the patient can take.
-nadph is necessary for the glutathione pool

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13
Q

What drugs cause oxidative stress on RBC

A

Sulfamides, antimalarials, chlromanphenicol. Can cause hemolytic anemia

Relevant to G6PD

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14
Q

Malignant hypothermia

A

Genetic disorder of skeletal muscle (autosomal dominant)

  • results from altered ca2+ release from the sarcoplasmic reticulum
  • most cases caused by defective RYR1 gene (ryanodine receptor gene) and causes unregulated release of Ca from sarcoplasmic reticulum
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15
Q

What goes wrong with malignant hypothermia

A

Excessive ca2 cause lactic acidosis from anaerobic exercise.

  • muscle fibers die leading to hyperkalemia and myoglobinuria
  • triggered by inhalation anesthetic(halothane) or succinylcholine
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16
Q

What three things can lead to polydactyl ?

A

Over expression of GLI or SHH. Disruption in hoxd13 gene

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17
Q

What chromosome and part is SHH located on ?

A

Distal part of chromosome 7

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18
Q

Hypertelorism?

A

Over expression of SHH that leads to mediolateral facial extension

19
Q

Smith-lemi-opitz syndrome

A

Mutation In 7 dehydrochilesterol reductase…leads to microencphaly, mesodermal issues, polydactyl

20
Q

Achondroplasia

A

FGFR3 mutation. Almost always G transversion to C. ARGININE TO GLYCINE IN FGFR3 receptor protein. Mutation is located on the transmembrane region. Hot spot because the soerm has a selective advantage to survive despite causing mutation after birth. Gain of function mutation

21
Q

Diff mutations and types of FGFR3 gene ?

A

Thanatophoric dysplasia These two are extracellular domain and SADDAN dysplasia
Achondroplasia Transmembrane domain
Hypochondroplasia tyrosine kinase

Severe to least severe

22
Q

AZFa, b , c

A

Azoospermia factor are found deleted In infertile men

23
Q

What chromosome are alpha globulin genes found on ?

A

Chromosome 16

24
Q

What chromosome are Beta genes found on ?

A

Chromosome 11

25
Q

What are three drugs used to treat sickle cell ?

A

Derepress the epigenetic methylation that caused fetal hemoglobin(more soluable) to be repressed.

  • 5-axacytidine(decitabine) = demethylating drug
  • hydroxyurea = mechanism unknown but is best drug
  • buytrate compounds = inhibit histone deactylation
26
Q

What sequence should you think of when you see the word sines

A

Alu sequence

27
Q

What are the three types of pseudogenes

A
  1. Vestigial Lay dormant I.e. Vitamin c
  2. Duplicated Not expressed I.e. Beta globulin
  3. Processed pseudogenes No promoter or intron
28
Q

What are two ways that repetitive transposons can lead to disease

A
  1. Jumping genes can be inserted in a critical spot in genome and disrupt the gene
  2. Repetitive sequences may lead to misalignments during MEISOIS AND GENE REPLICATION
29
Q

What is the benefit of using PCR over southern blot when looking at strs and vntr

A

Don’t need a large sample and can look at more than one locus at a time. Especially helpful doing paternity test

30
Q

What is thought to be the mechanism behind evolution

A

Gene duplication…because there can be a buildup of mutations that have subtle changes that aren’t an issue because the original copy still works. Mutations happen quicker

31
Q

What drugs use TPMT to inactive

A

6 mercaptopurine

Azathioprine

32
Q

Holoprosencephaly

A

Mutation in SHH or the six3 gene (regulator of SHH)

33
Q

Gorlin syndrome (Neviod basal cell carcinoma)

A

Mutation in patched (Ptc) gene

-early basal cell cancer and rib defects

34
Q

Pallister hall syndrome

A

Mutation in the GLI genes

-brain tumors, polydactyl

35
Q

Rubinstein taybi syndrome

A

Mutation in the CREBB gene

  • broad thumbs and toes
  • mental disability, short stature, small head, facial features
36
Q

What chromosome are alpha globulin genes found on ?

A

Chromosome 16

37
Q

What chromosome are Beta genes found on ?

A

Chromosome 11

38
Q

What are three drugs used to treat sickle cell ?

A

Derepress the epigenetic methylation that caused fetal hemoglobin(more soluable) to be repressed.

  • 5-axacytidine(decitabine) = demethylating drug
  • hydroxyurea = mechanism unknown but is best drug
  • buytrate compounds = inhibit histone deactylation
39
Q

Autosomal trisomy examples

A

21 Down Syndrome
18 Edward Syndrome
13 Patau Syndrome

40
Q

Sex chromosome Aneupolidy examples

A 
Turner syndrome (45,X)
Klinefelter Syndrome (47,XXY)
41
Q

Down syndrome

A

Chromosome 21. Increased maternal age affects meiosis 1 no disjunction during oogenesis.
Symptoms: intellectual disability, short stature, congenital heart, epicnathal folds , up slanting palpebral fissures, depressed nasal bridge
single palmar crease

42
Q

Edward syndrome

A

Trisomy 18. Non disjunction during oogenesis
Symptoms: clenched fist, congenital heart defects, low set ears, micrognathia, intellectual disability, microcephaly, overlapping of fingers

43
Q

Patau syndrome

A

Trisomy 13. Non disjunction during oogenesis
Features: polydactyl, CLEFT LIP AND PALATE, micropthalmia, cardiac anomalies , intellectual disability due to major cleft lip issue

44
Q

Turner syndrome

A

X chromosome monosomy
-short stature, webbed neck, cystic hygroma at birth (neck swelling), primary amenorrhea (no menstruation), gonadal dysgenesis, streak ovaries. Make sure there is no Y because can lead to gonadal blastoma so must remove the gondal streak. NO BARR BODY. Look in lecture

45
Q

Klinefelter syndrome

A

47,XXY

  • non disjunction during meiosis.
  • testicular atrophy
  • female distribution of hair, infertility
  • presence of a Barr body in the buccal mucosal cells

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