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biol 1001 > Lecture 6 + 7 - Genetics & Heredity > Flashcards

Lecture 6 + 7 - Genetics & Heredity Flashcards

1
Q

what is heredity

A

transmission of genetic characteristics to offspring though genes

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2
Q

what is genetics

A
  • study of inheritance
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3
Q

what is an allele

A

variant of gene controlling same trait
(dominant or recessive)

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4
Q

what is a transgenic organism

A

-functioning foreign genes
-desirable gene inserted from one species/breed to another
-can be to change function or determine how it functions

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5
Q

who is rosie the cow

A
  • gene inserted to alter milk production to make it easier to digest for humans
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6
Q

what is a cloned animal

A
  • creating organism that is genetically identical to another
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7
Q

what is gene therapy

A
  • intro of foreign genes
  • replace mutated gene w/ healthy copy
    -inactivate a gene
  • introduce new gene to fight disease
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8
Q

what is prenatal genetic screening

A
  • while still in womb; cells & amniotic fluid removed & tested
  • checks for chromosomal abnormalities
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9
Q

what is prenatal amniocentesis

A

amniotic fluid is removed w/ needle
- only done when necessary

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10
Q

what is prenatal chorionic villi sampling

A
  • villi tissue withdrawn
    -suction catheter through vagina into uterus
    -can also be done w/ needle through abdominal cavity
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11
Q

what is NSO?

A
  • newborn screening ontario
    -screens for hemoglobinopathies (early detection of 20+ diseases & allows for early intervention)
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12
Q

what is the central dogma

A
  • flow of genetic info
  • DNA transcribed –> mRNA –> translated into protein
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13
Q

what is the human genome?

A
  • construct karyotype of chromosome pairs
    -largeset to smallest
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14
Q

what are the parts of chromosome

A

short arm (p)
long arm (q)

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15
Q

how would you use p & q to describe genetic features?

A

2p = genetic feature on short arm of chromosom 2
OR 2q = genetic feature on long arm of chromosome 2

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16
Q

what is a locus?

A

the gene location

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17
Q

what is a homolous pair?

A

same structure (copy of genes) and same trains located in same position (locus)

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18
Q

what is a genotype

A
  • genes an organism possesses
  • genetic makeup
    -complete set of genes passed on by inheritance
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19
Q

what is a phenotype

A
  • observable trait
    -expression of inherited trait
  • eye colour, hair, height etc.
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20
Q

who is gregor mendel & what did he do

A
  • pea plant inheritance guy
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21
Q

what are the pea plant experiments

A
  • looked at one trait at a time
    -self & cross fertilization
    -bred homozygous plants
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22
Q

what is a monohybrid cross?

A
  • 1 type of allele w/ 2 potential physical traits
  • top line - allele from mother
  • left line - allele from father
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23
Q

what is a dominant allele

A
  • determines phenotype
  • only one copy required to express
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24
Q

what is a recessive allele

A
  • does not affect phenotype
  • two copies required to express
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25
Q

what are polygenic traits?

A
  • more than 1 gene involved in producing trait
  • most inherited traits
    -trait is result of combo of genes
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26
Q

what is incomplete dominance

A
  • phenotype of heterozygote btw 2 homozygotes
  • e.g. red flower crossed w white flower; both dominant –> pink flower
27
Q

what are codominant traits?

A
  • 2 different dominant genes occur togehter
  • both fully expressed
  • blood type & their antigens (AB)
28
Q

what are the different blood types?

A
  • i (O) recessive
  • IA (A)
  • IB (B)
  • A & B dominate over O
29
Q

what are sex-linked traits

A
  • carried on sex chromosome
  • X-linked & Y-linked
  • X is more common bc 3/4 can be X vs 1 Y
30
Q

what is hemizygous?

A
  • any gene w/ no allelic counter part (1 copy)
  • X-linked genes in male (bc it would be XY)
31
Q

what is pseudodominance?

A
  • recessive allele determines phenotype
  • when only one copy of allele is present (hemizygous alleles)
32
Q

what represents a male on a pedigree

A

square

33
Q

what represents a female on a pedigree

A

circle

34
Q

what represents unspecified sex on pedigree

A

diamond shape

35
Q

what represents an affected individual on a pedigree

A

red/ coloured in shape

36
Q

what does a line between shapes mean

A

mating

37
Q

what does a double line between shapes mean

A

mating btw relatives
- consanguineous mating

38
Q

what is autosomal dominant inheritance

A
  • occurs in every generation
    -every affected child has an affected parent
  • equal ratio of affected male to female
  • e.g. huntingtons, AB blood group
39
Q

what is autosomal recessive inheritance

A
  • often skips generations bc 2 copies needed to see trait
  • affected child may have 2 unaffected parents
    -in breeding increases odds of passing onto kids
40
Q

what is x-linked dominant inheritance

A
  • does not skip generations
  • affected males -> from affected mother
  • affected females -> either
  • affected father –> all daughters affected not sons
  • heterozyg. mother -> about half of kids affect
41
Q

what is x-linked recessive?

A
  • most affected individuals are male
    -affected male -> all daughters = carriers, sons unaffected
  • affected female -> all sons
    -carroer female -> 1/2 sons affected
42
Q

what is polyploid/

A
  • organism w. >2 chromosome sets (3n, 4n)
43
Q

what is aneuploid

A
  • more than or less than any 1 chromosome
44
Q

what is nondisjunction

A

-failure of homologous chromosomes to separate in meiosis
-result = aneuploidy

45
Q

how can an individuals genetic code change?

A
  • may occur spontaneously
  • most due to exposure to mutagens
46
Q

what is point mutation

A

-involves single base pair
- deletion, insertion or substitution

47
Q

what is a silent mutation

A
  • base change but same AA is coded
  • base change but usually has no detectable effect on phenotype
48
Q

what is a missense mutation

A
  • change results in one different AA
49
Q

what is a nonsense mutation

A
  • change from AA to stop codon
  • protein = prematurely terminated
  • non functional/detrimental
50
Q

what is a frameshift mutation

A
  • entire reading frame shifted
    -has downstream effect
  • e.g. insertion of nucleotide
51
Q

what are single gene diseases?

A
  • cystic fibrosis
  • phenylketonuria
    -tay-sachs disease
52
Q

what is cytogenetics?

A
  • changes in number of chromosomes
  • changes in structure of chromosomes
53
Q

how do chromosomes structure changes occur

A
  • investion
    -duplication
    -deletion
    -insertion
    -translocation
54
Q

whatare examples of chromosomal mutations

A
  • trisomy 21 (down syndtome)
  • CML
  • klinefelter (XXY)
  • turner syndrome (XO)
55
Q

what is a mutagen

A
  • agents that cause genetic mutations
    -change code by damagin DNA
56
Q

how can some mutations be inherited?

A
  • somatic vs germ line mutations
57
Q

what is a somatic cell mutation

A
  • never passed on
    -damages individual, not offspring
  • exception; if mutation occurs to DNA that regulates cell cycle
58
Q

what os cancer?

A
  • group of diseases
  • uncontrolled cell growth
  • balance btw cell growth & apoptosis is not in homeostatic state
59
Q

what is a tumor suprssor gene?

A
  • encode protein to slow cell cycle or promote apoptosis
60
Q

what is a carcinogen?

A
  • agent (mutagen) capable of creating mutations in DNA that result in cancer
61
Q

what are the genetics of cancer?

A
  • not usually inherited
  • <10% hereditaru
    -small % of spont. tumors due to mutations thru DNA replication & repair
62
Q

what are protooncogenes

A
  • encode proteins that stimulate cell division
  • oncogenes in normal non-transformed cells
63
Q

what are oncogenes

A
  • capable of transforming a cell
  • if expressed at high levels or consititutively; potential to cause cancerr

biol 1001 (15 decks)

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