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Genetics > Lecture 4: Genetics and Human Development > Flashcards

Lecture 4: Genetics and Human Development Flashcards

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Biology 101 flashcards
1
Q

adult testing

A

-predict info about health for the future

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2
Q

testing before birth

A
  • embryo biopsy (IVF)
  • fetal DNA in maternal blood
  • fetal free DNA (CF)
  • maternal blood triple test (blood sample)
  • ultrasound
  • chorionic villus sampling
  • amniocentesis
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3
Q

embryo biopsy (IVF)

A
  • superovulation under if medicine?
  • wait to 8 cell stage (differentiated cell)
  • whole genome sequencing
  • taking out one cell does not disrupt the development of the embryo
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4
Q

fetal DNA in maternal blood

A
  • fairly new
  • some fetal cells get in maternal blood circulation
  • male pregnancy easy to differentiate from mother
  • cells can live happily in mother circulation for many yrs.
  • making it unreliable
  • not where we are heading today
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5
Q

fetal free DNA (CF)

A
  • fetus DNA not bound
  • disappears after pregnancy
  • mother gives up 10ml of blood around 7 weeks in pregnancy
  • alot safer than amniocentesis

3-13%

  • can be used to figure out if a child may have down syndrome
  • use markers on the chromosome and do multiplex sequencing
  • revolution prenatal testing
  • only cost $600 in Australia
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6
Q

maternal blood triple test (blood sample)

A
  • test for three compounds to determine if something is wrong with the fetus
  • testing has to fall within a range
  • AFP-high concentration, if you have neural tube defect
  • HCG and Osteriol
  • likelihood of a trisome
  • has been going on for a while
  • estimate risk that a mother will have a child with a spinal defect of ?
  • subjectivity in interpretation
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7
Q

ultrasound

A
  • routine
  • done 11-12 weeks routinely
  • @ 20 weeks know the sex of the fetus
  • look a nuchal transluecency (gap measurement at the back of the neck)
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8
Q

chorionic villus sampling

A
  • chorion is a membrane derived from the same tissue as the embryo
  • separate maternal and fetal issue (contamination problem)
  • 10-30mg chorion required
  • done between 10 and 12 weeks of pregnancy
  • older mothers (women in their 40 go right into sampling)
  • same genetic origin as the fetus itself
  • transdominal sampling of the chorion
    • suck out member for karyote and fetus
  • pick up chromosome
  • keep for short or long term depending on what you are looking for in the pregnancy
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9
Q

Amniocentesis

A
  • 10-12 weeks
  • any earlier leads to effect in limb formation
  • see if indicator of neural tube defect
  • average in Australia is 16 weeks
  • pull about 20 ml
  • decreasing due to using the cell free technique
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10
Q

age and risk of aneuploidy in liveborn children

A
  • aneuploidy is +/- a chromosome
  • risk of aneuploidy increases with age
  • 37 high risk age for significant testing
  • exponential increase of down syndrome at age 37
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11
Q

women in population deciding to have children much later

A
  • 29.3 median age of women
  • median age of first time mother is continuously increasing significantly (6 more years added to the average age of mothers in 1986)
  • 31.5 in Victoria
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12
Q

transmission of rates: aneupolidy happens

A

-nondisjuntion at anaphase 1-three copies
-nondisjunction at anaphase 2- three copies or 1
chromosome 13-gene poor, few genes ?
chromsome 18-low setties
-quite severe mental impairment
-either die really early after birth or miscarriage
trisome 21-level in old age occurs in 1/61

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13
Q

X chromosome not disjoining

A

Anaphase 1 or 2-Kleinfelters (XXY)

XXO

  • normal phenotype
  • reproduction problems
  • disrupted miotic

XO-turner syndrome

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14
Q

aneupolidy occurs in older women

A
  • coding of gene disrupted then the chromosomes don’t

- length of expendid miosis

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15
Q

complicated type of inheritance

A
  • might find mutation in gene

- effect in one person may be entirely different in another person

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16
Q

pedigree way of demonstrating inheritance

A
  • first thing that occurs in genetic testing
  • pick up patterns of inheritance consanguinity-recessive traits come out of nowhere
  • double line mating between couple with a common ancestor
17
Q

X linked dominant or recessive

A
  • higher proportionate of males that has an effect

- pedigree analysis critical for genetic inheritance doctore

18
Q

X linked dominant

A

-if father carries trait, then all his daughters will have the trait

skipping a generation does not prove that the trait is recessive

dominant autosomal trait there but not everyone expresses it

19
Q

lethality

A

ex. Achondroplasia
- interrupts the development of the limbs
- heterozygous dominant
- 1 in 4 pregnancies will terminate

20
Q

variable expression

A
  • same genotype, express differently
  • more serious phenotype then other
  • NF1
21
Q

reduce penetrance

A
  • has the same genotype but not expressing it

- ex. 6 or 7 finger

22
Q

CF

A
  • over 2000 mutations
  • 127 of them result in defective protein
  • deletion of phenylalanine-common
  • ethic origin determines likelihood of mutation that will lead to CF
23
Q

Fragile X

A
  • can expand
  • 3 base repeating
  • hunting in the coding
  • large testis
  • stop expression of MMR gene
  • Huntington disease
    • produce toxic protein that cause defect
  • degeneration of the brain
    • loose control of movement
24
Q

Number of repeated sequence

A
  • determines if the disease is penetrance or not

- if inherited through father, it expands further and has a quicker effect

25
Q

anticipation

A

-go through family pedigree, disease gets worse

26
Q

heterogeneity

A
  • 120 independent genes influence deafness
  • same phenotype, but different genes (x-linked or autosomal)
  • different genes contributing to breast cancer
27
Q

genes influenced by environment

A

ex. neural tube defects, schizophrenia
- multifactorial
- threshold
- spinobiphida
- things you can and can’t control

28
Q

multifactorial

A

-strong genetic component but also influence by the environment

29
Q

threshold

A
  • accumulate some of each
  • different for men and women
  • show phenotype or not
30
Q

spinobiphida

A
  • what causes it to increase in the environment

- take folic acid in the beginning of pregnancy to reduce risk

31
Q

things you can and can’t control

A
  • can’t control age, sex, genes from mom and dad
  • can control environmental influence (like smoking for heart attack)
  • only if we knew the environmental factors for cancer like breast caner
32
Q

genomic imprinting

A
  • gene only express from either paternal or maternal
  • chromosome 15
  • some genes only inherited from copy of mom or from dad
33
Q

chromosome 15

A
  • paternal
  • obesity syndrome
  • reduce testis
  • maternal
  • angelmann region
34
Q

mitochondrial genome

A
  • all mom
  • have own genome in mitochondria
  • male mitochondria disintegrates
  • own genome and sequence
  • 6,000 bases
  • genes associated with energy and metabolism
  • 100 mutations can result in phenotypic outcome
  • nucleus is 1/56 to grandmother
  • son will not pass mitochondria to offspring

Genetics (9 decks)

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