3.1 Flashcards

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1
Q

genome

A

the whole of the genetic information of an organism

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2
Q

gene

A

short stretch of DNA that influences a specific characteristic

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3
Q

allele

A

the various, specific forms of a gene that usually vary from each other by 1 or a few bases

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4
Q

gene locus

A

the specific position of a gene on a chromosome

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5
Q

diploid state

A

having a pair of each kind of chromosome

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6
Q

haploid state

A

having 1 copy of each chromosome

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7
Q

outline the hierarchy of genetic information from biggest to smallest and briefly define each one of them

A

genome-> chromosome-> genes-> allele

genome: has entire set of chromosomes of an organism
chromosomes: long DNA molecules, contains many genes
genes: short stretches of DNA, usually code for 1 characteristic
allele: a specific form of a gene

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8
Q

Homozygous

A

have 2 copies of the same allele

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9
Q

Heterozygous

A

have 2 different alleles

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10
Q

Genotype

A

the alleles you have for a gene

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11
Q

Phenotype

A

trait you have as a result of alleles

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12
Q

Mutation

A
  • changes in DNA sequence
  • creates new alleles
  • daughter cells contain DNA that differs from the DNA in the parental cell
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13
Q

causes of mutations

A

DNA replication mechanism (mistakes), exposure to radiation+chemicals (aka mutagen)

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14
Q

effects of mutations

A
  • cause bases to be deleted/added to DNA sequence

- cause a different nitrogenous base to be used at a particular place

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15
Q

base-substitution mutation

A

mutation that changes one nitrogenous base in a sequence

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16
Q

effects of a base-substitution mutation

A

if an amino acid is changed, the polypeptide formed might work different or not at all. At the same time, it is possible that the amino acid sequence may still stay the same.

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17
Q

human genome project

A

aim to determine the complete sequence of the human genome and identify every gene it contains

18
Q

how many bases estimated in the human genome?

A

3.2 billion bases

19
Q

what did genetic sequencing develop

A

drought-resistant crops, antimalarial medicine, bacteria that consumes toxic waste

20
Q

what is average human gene size?

A

2000 base pairs

21
Q

sickle cell anemia

A

common genetic disease where malaria is endemic (commonly found)

22
Q

symptoms of sickle cell anemia

A

extreme pain, weakness, heart attack, stroke, pneumonia, bone malformation, death

23
Q

base substitution mutation in sickle cell anemia

A

GAG–> GTG in sense strand

24
Q

mRNA base sequence that’s transcribed in sickle cell anemia

A

GAG–> GUG

25
Q

change to sequence of a polypeptide in hemoglobin in sickle cell anemia

A

Glutamic acid–> valine (in 6th position)

26
Q

what happens once initial mutation occurred?

A

new allele is created

27
Q

what is hemoglobin

A

vital protein found in erythocrytes (red blood cells). It carries oxygen throughout the body.

28
Q

how is hemoglobin made

A

made from 2 copies of beta subunits combined with 2 alpha subunits and 4 heme groups

29
Q

when do problems occur in hemoglobin?

A
  • low oxygen levels
  • turned to long fibres from Hb^s, which will cause:
    1. severely reduces ability to carry oxygen
    2. long fibres poke into cell membranae, distort its shape, give red blood cell characteristic curved ‘sickle’ appearance
30
Q

problems with the new shape of sickled red blood cells

A
  1. can get stuck, clog blood vessels anywhere in the body
  2. cause intense pain as blood supply fails
  3. can have stroke
31
Q

consequence as a result of sickled cells must be broken down and eliminated from body

A
  1. strains liver
  2. cause shortage of functioning anemia (red blood cell)
  3. damage bone structure (need make new red blood cells to replace it)
32
Q

pleiotropy

A

when 1 gene has multiple effects

33
Q

when does single cell amenia happen

A

person is homozygous for Hb^s

so both alleles agree, all hemoglobin contains alternate beta subunit

34
Q

person with alleles Hb^A Hb^A

A

their hemoglobin won’t ever polymerise, and their erythrocytes won’t ever sickle
so…normal hemoglobin, no sickling, no protection from malaria

35
Q

person with alleles Hb^A Hb^S

A

heterozygous

carriers of sickle cell trait, protection from malaria

36
Q

person with alleles Hb^s Hb^s

A

homozygous

altered hemoglobin, sickle cell anemia, no protection from malaria

37
Q

when is the exclusive condition for the sickling of cells?

A

when cells are infected by plasmodium falciprum (paraasite that cause malaria)

38
Q

homologous chromosomes

A

2 chromosomes of same length

39
Q

how many protein-coding genes in bacterium (escherichia coli)

A

4000

40
Q

how many protein-coding genes in human

A

20000

41
Q

how many protein-coding genes in rice

A

35000