Genetics Flashcards

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1
Q

differentiation def

A

specialization of (stem) cells

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2
Q

human genome project

A

1990-2003, effort to map the entire human genome > found that all humans have virtually the same genes but unique allele combinations

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3
Q

single-gene inheritance

A

traits influenced by only one pair of genes

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4
Q

traits that are polygenic

A

alcoholism (genes create addictive pull), nearsightedness, schizophrenia

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5
Q

factors causing genetic disorders

A

“advanced maternal age” (above 35), inherited disorders, spontaneous mutation, environment

  • approx 60% of abortions in 1st trimester caused by chromosomal abnormalities
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6
Q

sex linked chromosomal disorders

A

red-green color blindness (pinched X) - mental disability, physical abnormalities, emotional problems

Turner syndrome (XO) - no menstrual cycle, no 2ndary sex characteristics

Klinefelter’s Syndrome (XXY) - sterile, female body characteristics

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7
Q

parental imprinting

A

same allele affects embryos differently depending on whether it comes from mom or dad

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8
Q

parental imprinting example

A

chromosome 15
dad - Prader Willi = overweight, slow moving, stubborn

mom - Angelman = underweight, hyperactive, overly happy

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9
Q

dominant disorders probability and examples

A

rare because people rarely live long enough to reproduce
ex:
Hungtington’s chorea & Marfan syndrome

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10
Q

recessive disorder examples

A

sickle cell anemia, CF, Tay-Sachs, Phenyletonurio (PKU)

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11
Q

why are recessive disorders passed on

A

sometimes because the genes are protective

ex: sickle cell anemia protects against malaria

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12
Q

triple/quad screen test

A

15-20 wks, maternal blood test for chromosomal abnormalities, low risk but cannot diagnose

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13
Q

ultrasound

A

low/no risk, helps estimate age of baby and gender, can identify physical abnormalities

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14
Q

chorionic villus sampling (CVS)

A

9/10th wk, samples hair-like material surrounding embryo

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15
Q

amniocentesis

A

16th wk, samples fetal cells from amniotic fluid

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16
Q

genetic counseling

A

diagnostic and preventative for higher risk parents that have family history etc

17
Q

gene therapy

A

modifies a person’s genes to treat or cure disease

methods: 1. replacing/inactivating disease causing gene

  1. introducing a new/modified gene to help treat a disease
18
Q

In Vitro Fertilization (IVF)

A

adding sperm to ova that have been surgically removed from woman’s ovary and then implanting fertilized egg into woman’s uterus; no evidence of disadvantage for babies; some legal restrictions

19
Q

who is IVF used by

A

couples w/high genetic risk, gay couples, those who struggle with infertility, older women, those who want child without partner

20
Q

monozygotic twins

A

one zygote that divides, same genotype but slight variation in pheno due to environ., change can occur right after conception due to mutations bc of separate amniotic sacs/cords

21
Q

dizygotic twins

A

2 ova fertilized by 2 separate sperm, incidence is genetic, siblings born at the same time, older women more likely to double ovulate

22
Q

methods of studying individual differences

A

comparing similarity to degree of relatedness

23
Q

behavioral genetics

A

establishes the level of heritability - measure of extent to which genes determine a particular behavior or characteristic

24
Q

concordance rate

A

% of time both members show the same characteristic, higher = greater genetic influence

25
Q

heritability estimate (H^2)

A

estimate of the proportion (%) of variation within a population that is related to genes, higher # = higher estimate of genetic influence

26
Q

problems with adoption studies

A

selective children, children with behavior problems, prenatal experiences unknown

27
Q

equal environment assumption

A

assumption that MZ twins have more shared environment whereas DZ twins more non-shared; assumption that people treat MZ more similarly, evoke similar responses from others

28
Q

shared vs non-shared environment

A

shared = similar environ/experiences
non-shared = unique experiences/activities

people = creators of environment

29
Q

heritability inferences determined by….

A

group data, cannot be individualized, evidence of genetic influence does not imply genetic predetermination

30
Q

epigenetics

A

study of how environmental factors affect genes and genetic expression; factors can express or silence performance of certain genes

31
Q

environmental factors (epigenetics)

A

stress, environ, sleep, trauma, disease, diet

32
Q

range of reaction

A

genotype specifies range within a phenotype is expressed, environ. can determine the way that a genotype will be expressed as a phenotype

33
Q

passive genetic-environ interaction

A

environment encourages predispositions

ex: parents create home environment that matches child’s tendencies

34
Q

evocative gen-env interaction

A

inherited tendencies evoke more positive stimulation

ex: smiling babies evoke more positive stimulation

35
Q

active gen-env interaction

A

genetic makeups encourage “niche-picking”

ex: individual selects, seeks, or builds env. compatible with their predispositions