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Genetics > Chap 5- single gene disorders > Flashcards

Chap 5- single gene disorders Flashcards

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Biology 101 flashcards
1
Q

phenotype

A

observable characteristics of person, organ, or cell

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2
Q

genotype

A

combination of alleles that a person possesses at a single locus (genetic make up)

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3
Q

disease phenotype

A

specific manifestations that arise in response to differential expression of just one or a small number of genes that may be harmful

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4
Q

character or trait

A

observable manifestations that are not disease associated

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5
Q

genetic variation

A

changes in the base sequence of our DNA -> changes in phenotype

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6
Q

pedigree

A

graphical representation of a family tree that uses standard symbols

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7
Q

proband

A

first member in a family to be evaluated by physiciain

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8
Q

square symbol

A

male

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9
Q

circle symbol

A

female

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10
Q

diamond symbol

A

sex unstated

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11
Q

dark symbol

A

affected person

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12
Q

symbol with dot in the middle

A

carrier who will not manifest disease

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13
Q

symbol with line through middle

A

carrier who may go on to manifest disease

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14
Q

symbol with diagonal line

A

deceased

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15
Q

dominant trait

A

gene is expressed with single copy

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16
Q

recessive trait

A

will need two copies of gene to be expressed (only if both alleles have mutations)

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17
Q

incomplete penetrance

A

just because someone has faulty gene does not always mean they will develop the disease

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18
Q

male sex chromosomes

A

X and Y, hemizygous

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19
Q

female sex chromosomes

A

X and X

20
Q

types of inheritance patterns

A
  • autosomal dominant
  • autosomal recessive
  • y linked
  • x linked dominant
  • x linked recessive
21
Q

autosomal dominant inheritance

A
  • only one copy required to be affected
  • males and females equally affected and can transmit disease
  • offspring have 50% chance of dev disease
22
Q

autosomal recessive

A
  • need affected genes from both parents
  • both parents are carriers
  • chance that each offspring has disease is 25%
23
Q

compound heterozygote

A

affected child born to parents who have different mutations for same gene

24
Q

consanguineous

A
  • autosomal recessive diseases can skip generations
25
Q

symbol with two lines in middle

A
  • consanguineous mating
26
Q

Y chromosome

A
  • has very few genes
  • genes have male specific function
  • helps to maintain balance between males and females
27
Q

X- chromosome inactivation

A
  • compensate for having different number of X chromosomes in males and females
  • initiated after fertilization
  • forms barr body
28
Q

pseudoautosomal regions

A
  • regions in both X and Y chromosomes that have genes similar to autosomes
  • no X and Y recombination outside of this region
29
Q

how does X-chromosome inactivation occur?

A

marked by long ncRNA and whatever is marked is silenced

30
Q

X-linked dominant inheritance

A
  • affected individuals can be either sex
  • significantly more females than males
  • affected females have milder symptoms
  • no male to male transmission
  • children have 50% chance of being affected
31
Q

X-linked recessive inheritance

A
  • mostly males
  • no male to male transmission
  • male cannot be carrier
32
Q

four rules of inheritance

A
  • dominant diseases- chance offspring can get disease is 50%
  • recessive diseases- chance offspring can get disease is 25%
  • carrier refers to recessive diease
  • no male to male transmission in X linked diseases
33
Q

matrilineal inheritance

A
  • mitochondrial DNA only comes from mother
  • more prone to mutation due to proximity to ROS
  • mitochondrial DNA disorders can be of either sex but males dont transmit
34
Q

modifier gene

A
  • gene that modifies another gene

- modifies effects of disease producing gene

35
Q

locus heterogeneity

A
  • mutations causing same disease come from two totally different mutations
  • people who have same disease can produce normal offspring
36
Q

penetrance

A

probability that a person who has a mutant allele will express disease phenotype

37
Q

imprinting

A
  • mutant allele is not expressed
  • silencing
  • for most genes you have two working copies from mom and dad
  • with imprinting will only have one working copy
38
Q

Angelman

A
  • maternal deletion in Ch 15 q11-13
  • effects ubiquitin pathway
  • learning difficulties, speech problems, seizures, jerky movements, and unusually happy
39
Q

Parder- Willi

A
  • paternal deletion of Ch 15 q11-13
  • gene involved in mRNA splicing
  • learning difficulties, short stature, compulsive eating
40
Q

anticipation

A
  • mutation can expand from generation to generation
  • phenotype varies in a directional way
  • can be expressed at earlier age and become increasingly severe
41
Q

allele frequency

A
  • measure of relative frequency of allele on a genetic locus in a population expressed as a percentage
  • frequency of allele can vary widely from one population to another
42
Q

nonrandom mating

A
  • humans select mate and prefer phenotypes like themselves
  • causes allele frequency to skew to one direction
  • helps to spread disease phenotype
43
Q

forces that lead to evolutionary change

A
  • negative/purifying selection
  • new mutations
  • influx of immigrants
  • genetic drift
44
Q

genetic drift

A

out of all alleles in population, only those present in people who reproduce can be transmitted

45
Q

population bottleneck

A
  • population becomes very small and then expands
  • removes all species not fit to survive
  • due to natural disaster
46
Q

founder effect

A
  • when group emigrate to form separate colony they represent a subset of genetic variation in original population
  • expansion leads to new genetic pool
47
Q

balancing selection

A
  • evolution throws in mutant gene if it is favorable

- i.e. sickle- cell anemia causing malaria resistance

Genetics (8 decks)

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