Inheritance Flashcards

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1
Q

Define genotype

A

The alleles possessed by an organism

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2
Q

Define phenotype

A

The characteristics of an organism

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3
Q

What are the two modes of inheritance

A

A. Complete Dominance

B. Co-dominance

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4
Q

What is complete dominance

A

When the effect of one allele completely masks the effect of the other allele in a heterozygote

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5
Q

What is co-dominance?

A

When both alleles show their effect on the phenotype in the heterozygote

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6
Q

What is the notation used for co-dominance?

A

C^ B or I^A

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7
Q

How many blood groups are there?

A

There are four blood in the ABO system: A, B, AB, O

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8
Q

Which alleles in the ABO blood groups are co-dominant and which are recessive?

A

I^A and I^B are co-dominant and i is recessive

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9
Q

What are all the possible genotypes to all the phenotypes of blood groups?

A

Blood Type A I^A I^A or I^A i
Blood type B I^ B I^ B or I^B i
Blood Type AB I^A I^B
Blood Type O ii

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10
Q

What did Gregor Mendel’s experiments do?

A

They demonstrated the principles of inheritance using crosses of pea plants

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11
Q

What did Mendel do during his experiment?

A
  1. He crossed peas that had a different trait- the two varieties were true-breeding
  2. He examined the progeny of F1 gen. and found that all the offspring had the characteristic of one of the parents
  3. He self-fertilised the F1 gen. and examined the offspring of the F2 gen.
  4. There was a ratio of 3:1
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12
Q

What did Mendel’s success rely on?

A

On obtaining numerical results and using very large numbers of pea plants

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13
Q

What is a monohybrid cross?

A

A cross in which the inheritance of only one trait is studied

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14
Q

What is sex-linkage?

A

The gene controlling the characteristic is located on a sex chromosome

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15
Q

What is sex-linkage always due to?

A

Genes on the X because X has thousands of genes

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16
Q

Is X-linked recessive conditions more frequent in males or females?

A

Males

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17
Q

Is X-linked dominant conditions more frequent in males or females?

A

Females

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18
Q

Who can be carriers of recessive alleles and what does this mean?

A

Females can be carriers and so all sons inherit it from their mothers

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19
Q

What are genetic diseases due to?

A

They are due to specific alleles and can be inheritited

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20
Q

Describe cystic fibrosis

A

AUTOSOMAL RECESSIVE DISEASE
caused by allele of the CFTR gene coding for a chloride channel
Produce mucus which is thick and sticky- respiratory failure

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21
Q

Describe Huntington’s disease

A

AUTOSOMAL DOMINANT DISEASE
neurodegenerative disease caused by alleles of the gene HTT coding for Huntingtin, a protein. Symptoms include- dementia

hd= normal allele HD= Huntigton’s disease

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22
Q

Describe Hemophilia

A

X-LINKED RECESSIVE DISEASE
caused by alleles of genes that code for coagulation factors
blood clotting is impaired in patients

X^H X^h = normal, carrier
X^h Y= haemophiliac

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23
Q

What is red-green colour blindness?

A

X-LINKED RECESSIVE
mild disability
caused by allele coding for a photoreceptor protein that detects specific wavelengths

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24
Q

What is a test cross?

A

Used to identify if an individual with a dominant phenotype is homozygous or heterozygous. The individual that is under question is crossed with an individual that has the RECESSIVE PHENOTYPE.

25
Q

How will the offspring be of a parent that is homozygous dominant?

A

ALL will have the dominant phenotype

26
Q

Why do we sometimes get different ratios in monohybrid crosses?

A
  1. Number of offspring is too small

2. One of the resulting genotypes of the offspring is lethal

27
Q

What are lethal alleles?

A

Alleles that cause an organism to die only when present in a homozygous condition.
Thus causing the ratio to be 2: 1 instead of 3: 1

28
Q

What is the law of segregation?

A

Two alleles of a gene separate into different haploid gametes in meiosis

29
Q

What is the law of independent assortment?

A

Presence of one allele of one gene in a gamete has no influence over which allele of the other gene is present in the gamete
STANDS FOR UNLINKED GENES

30
Q

What is independent assortment due?

A

Random orientation of bivalents in metaphase I of meiosis

31
Q

What are unlinked genes?

A

Genes that assort independently

32
Q

If the chromosomes are unlinked, what are the gametes produced by a genotype AaBb

A

AB, Ab, aB, ab

33
Q

What is gene linkage?

A

Genes whose loci are on the same chromosome and do not follow the law of independent assortment–> inherited together
New combination can be produced ONLY if crossing over takes place

34
Q

Show how we demonstrate linked A and B genes

A

a b

35
Q

What is Mendel’s dihybrid cross?

A

2 characteristics/traits examined

36
Q

What happened in Mendel’s dihybrid cross?

A

Performed a test cross between two characteristics: seed shape and seed colour.
R (dominant, round) and r (recessive and wrinkled) seed colour is controlled by Y (dominant, yellow) and y (recessive, green)

37
Q

What is the result of a dihybrid cross between two heterozygotes?

A

9:3:3:1 ratio

38
Q

What is the result of a cross between a double homozygous recessive and a heterozygote?

A

1:1:1:1 ratio

39
Q

Who proposed gene linkage and how?

A

Morgan proposed it.

He found patterns of inheritance that differed between males and females

40
Q

How can non-mendelian ratios be observed?

A
  1. The genes are linked
  2. Either of the genes has co-dominant alleles
  3. Either of the genes is sex-linked
  4. There is epistasis
  5. A genotype is lethal
  6. Polygenic inheritance
41
Q

What are recombinants?

A

Individuals that have a different combination of characters from parents

42
Q

How can new combinations arise in gene linkage?

A

only if crossing over takes place between non-sister chromatids

43
Q

When genes are linked, what happens when two double heterozygotes are crossed?

A

There are more of the parental combinations and fewer of the recombinants in the progeny

44
Q

What is a chi- squared test?

A

A test to see whether there is a statistically significant difference between the observed and expected results

45
Q

What are the steps for the Chi- Squared test?

A
  1. Define the hypothesis:
    Null hypothesis- there is no difference
    Alternative hypothesis- there is a difference
  2. Calculate the expected frequencies for each using:#
    expected frequency= expected probability * actual total
  3. Calculate x^2 using:
    x^2= Sum( fo - fe)^2 /fe fo= observed frequency, fe= expected frequency
  4. Find the degrees of freedom (one less than the total number of phenotypic classes)
  5. compare x^2 with critical value for specific degrees of freedom and p- level
  6. If x^2> critical —> reject null
    If x^2< critical—-> accept null
46
Q

What is a pedigree chart?

A

A chart of the genetic history of a family over several generations

47
Q

What is a pedigree chart used for?

A

To deduce the pattern of inheritance of a characteristic, almost always of a genetic disease

48
Q

In a pedigree chart, how can you tell if a disease is autosomal dominant?

A
  1. If 2 affected parents have an unaffected offspring
  2. ALL affected individuals MUST have at least one affected parent
  3. If both parents are unaffected, all offspring must be unaffected
49
Q

In a pedigree chart, how can you tell if a disease is autosomal recesssive?

A
  1. If 2 unaffected parents have an affected offspring

2. If both parents show a trait, all offspring must exhibit the trait

50
Q

In a pedigree chart, how can you tell if a disease is X-linked dominant?

A
  1. if a male shows a trait, so too must all his daughters as well as his mother
  2. An unaffected mother cannot have affected sons
  3. More common in females
51
Q

In a pedigree chart, how can yo tell if a disease is X-linked recessive?

A
  1. If a female shows a trait, then all her sons must as well including her father
  2. An unaffected mother can have affected sons if she is a carrrier
  3. more common in males
52
Q

What is epistasis?

A

Interaction between genes

This is where the effect of one gene is dependent on the presence of a one or more ‘modifier genes’.

53
Q

What is variation?

A

The differences between members of the same species

54
Q

What are sources of variation?

A

Gene mutations
Meiosis
Sexual reproduction

55
Q

What is discrete variation?

A

Individuals that fall into a number of distinct categories and it is usually due to one gene

56
Q

What is continuous variation?

A

Individuals can have any level of the phenotype between two extremes
This is genetically-determined due to polygenic inheritance

57
Q

What is polygenic inheritiance?

A

When a characteristic is controlled by the combined effects of 2 or more genes
Also influence by environmental factors

58
Q

What are histograms used for?

A

To show the expected distribution of the phenotypes in the offspring of a cross when a single trait is controlled by multiple genes
As the number of genes increase, the distribution becomes increasingly closer to the normal distribution