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Genetics > Inheritance > Flashcards

Inheritance Flashcards

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1
Q

Mendelian law of inheritance that suggests if two plants differ in one trait the resulting hybrid will have the trait of one of its parents, rather than a mix or another trait entirely (e.g. a red flower crossed with a white flower will produce either a red or white flower)

A

Law of uniformity

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2
Q

Mendelian law of inheritance that suggests that for any one trait, a parent will have a pair of alleles, and which allele is passed on is down to chance

A

Principle of segregation

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3
Q

Mendelian law of inheritance that states that different pairs of alleles are passed down independently of each other e.g. a brown eyed, black haired person mating with a blue eyed, blond haired person can produce a blue eyed, black haired person

A

Principle of independent assortment

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4
Q

Type of Mendelian inheritance where only one copy of a disease allele results in disease expression - the person has the disease if they are heterozygous

A

Autosomal dominant

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5
Q

Chance of offspring inheriting an autosomal dominant disease with one affected parent

A

50%

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6
Q

Chance of offspring inheriting an autosomal dominant disease if both parents are affected

A

75% (although in some cases homozygous offspring would die in utero, so would be 66% of live births)

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7
Q

The probability of a genetic trait being expressed among the population who carry the particular genes

A

Penetrence

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8
Q

Type of penetrance where anyone who has the genetic make up for a trait will express that trait

A

Complete penetrance

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9
Q

Type of penetrance where someone can have the genetic make up for a trait but not express that trait

A

Incomplete penetrance

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10
Q

Percentage penetrance of a trait

A

Percent of people who have the genetic make up for a trait who express that trait

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11
Q

Difference in severity of a disease among people who have the genetic mutation causing that disease

A

Variable expression

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12
Q

Phenomenon where an individual matches a particular genetic phenotype, but the traits are caused by environmental rather than genetic factors

A

Phenocopy

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13
Q

Type of Mendelian inheritance where disorders are only seen when an individual is homozygous for the disease allele

A

Autosomal recessive

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14
Q

Chance of offspring of two carrier parents inheriting an autosomal recessive condition

A

25%

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15
Q

Change of offspring of two carrier parents becoming a carrier for an autosomal recessive condition

A

50%

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16
Q

Change of offspring of two carrier parents being a non-carrier healthy individual

A

25%

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17
Q

Chance of offspring of an affected individual and a non-carrier healthy individual inheriting an autosomal recessive condition

A

0%

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18
Q

Chance of offspring of an affected individual and a non-carrier healthy individual becoming a carrier for an autosomal recessive condition

A

100%

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19
Q

Chance of offspring of an affected parent and a carrier parent being a healthy non-carrier individual for an autosomal recessive condition

A

0%

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20
Q

Chance of offspring of an affected parent and a carrier parent being affected by an autosomal recessive condition

A

50%

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21
Q

Chance of offspring of an affected parent and a carrier parent being a carrier for an autosomal recessive condition

A

50%

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22
Q

Chance of offspring of two affected parents being affected by an autosomal recessive condition

A

100%

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23
Q

Process where females in early foetal development have one copy of their X chromosome in each cell silenced

A

X inactivation/lyonisation

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24
Q

Structure made up by an inactivated X chromosome

A

Barr body

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25
Q

Process of X inactivation

A

Methylation

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26
Q

Parent copy of X chromosome which is inactivated

A

Random; some cells of a female embryo will have its male parent’s X chromosome and other cells will have its female X chromosome inactivated and all cells resulting from those early cells will have the same X chromosome inactivated

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27
Q

Type of inheritance where males only require the mutation on their single X chromosome, but females usually require mutations on both their X chromosomes which is very rare so largely males are affected

A

X-linked recessive

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28
Q

Phenomenon where females can express an X-linked recessive condition with only a single disease allele if during X inactivation most of their normal alleles are inactivated leaving mostly disease alleles

A

Unfavourable lyonisation leading to manifesting heterozygotes

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29
Q

Chance of a daughter of an affected male and a non-carrier healthy female being affected by an x-linked recessive condition

A

0% (unless in the case of unfavourable lyonisation)

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30
Q

Chance of a daughter of an affected male and a non-carrier healthy female being a heterozygous carrier for an x-linked recessive condition

A

100%

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31
Q

Chance of a son of an affected male and a non-carrier healthy female being affected by an x-linked recessive condition

A

0%

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32
Q

Chance of a son of an affected male and a non-carrier healthy female being a healthy non-carrier for an x-linked recessive condition

A

100%

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33
Q

Type of inheritance where both males and females only require one disease allele on an X chromosome to be affected

A

X-linked dominant

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34
Q

Chance of a son of an affected mother and healthy father inheriting an X-linked dominant disease

A

50%

35
Q

Chance of a daughter of an affected mother and healthy father inheriting an X-linked dominant disease

A

50%

36
Q

Chance of a son of an affected father and healthy mother inheriting an X-linked dominant disease

A

0%

37
Q

Chance of a daughter of an affected father and healthy mother inheriting an X-linked dominant disease

A

100%

38
Q

Reasons for females to inherit X-linked dominant conditions more commonly than males

A

Equal risk of inheriting from an affected mother but only females can inherit from an affected father
Some X-linked dominant conditions are fatal in embryo for males

39
Q

Parent mitochondrial DNA is inherited from

A

Mother

40
Q

Part of the sperm which does contain mitochondria

A

Body

41
Q

Purpose of mitochondria in the body of the sperm

A

Propels the tail

Shed when the sperm enters the ovum

42
Q

A phenomenon where the symptoms of a genetic disorder become apparent at an earlier age with each generation, seen in trinucleotide expansions

A

Anticipation

43
Q

Genetic disorders caused by an increased number of a certain codon (e.g. CGG)

A

Trinucleotide expansions

44
Q

Phenomenon where although structurally identical, certain genes are expressed differently depending on whether the gene has come from the mother or father

A

Genomic imprinting

45
Q

Phenomenon where a child receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent

A

Uniparental disomy

46
Q

Potential issues caused by parental disomy

A

Can disrupt genomic imprinting, resulting in imprinting disorders
Leads to homozygosity which can result in expression of autosomal recessive disorders

47
Q

Inheritance pattern where multiple genes as well as environmental factors influence whether a disease is present

A

Multifactorial inheritance

48
Q

Inheritance pattern where multiple genes but no environmental factors are present

A

Polygenetic inheritance

49
Q

Term for variations in genetic make up present in at least 1% of the total population, and associated with varied phenotype but not with disease

A

Polymorphism

50
Q

Polymorphism where restriction enzymes act at different site of DNA, resulting in different areas of DNA being cleaved

A

Restriction fragment length polymorphism

51
Q

Polymorphism where a single nucleotide is substituted at a certain point in the genome

A

Single nucleotide polymorphism

52
Q

Pattern within a genome where one or more nucleotides are repeated immediately adjacent

A

Tandem repeat

53
Q

Type of tandem repeat where up to ten nucleotides are repeated

A

Microsatellite

54
Q

Type of tandem repeat where more than ten nucleotides are repeated

A

Minisatellite

55
Q

Polymorphism where the number of tandem repeats in a specific area varies from person to person

A

Variable number of tandem repeats/copy number variations

56
Q

Effect in genetics where a population has a limited genetic variation due to being formed from a very small number of individuals out of a larger population

A

Founder effect

57
Q

Effect in genetics where the frequency of an allele is changed due to random chance

A

Genetic drift

58
Q

Effect where a beneficial mutation increases its frequency and becomes fixed in a population, which leads to a reduction in genetic variation of nucleotides which are near the beneficial mutation

A

Selective sweep

59
Q

Polymorphism of the serotonin transporter which may increase the risk of affective disorders and PTSD

A

Short allele of the 5HT transporter linked promoter region

60
Q

Situation where a single gene influences several characteristics

A

Pleiotropy

61
Q

Situation where a single gene influences several characteristics

A

Pleiotropy

62
Q

Presence in the same trait in a pair of twins

A

Concordance

63
Q

Trait that is not shared between twins i.e. presence of the trait in one twin and absence in the oher

A

Discordance

64
Q

Degree of variation in a phenotypic trait which is due to genetic variation between individuals; can be expressed as a percentage

A

Heritability

65
Q

Proportion of each genotype within a population e.g. AA, AB, BB

A

Genotype frequency

66
Q

Proportion of chromosomes within a population which contain a specific allele e.g. if a population contains the genotypes AA, AB, and BB it is the percentage of A alleles out of all the alleles

A

Gene frequency

67
Q

Law that states allele and genotype frequencies will remain constant in a population in the absence of other evolutionary influence

A

Hardy-Weinberg principle

68
Q

The phenomenon where genes which hinder survival and fertility are not passed on through generations

A

Natural selection

69
Q

The state of sharing a blood relationship which is genetically second cousins or closer

A

Consanguinity

70
Q

Interaction between different genes which are not alleles

A

Epistasis

71
Q

Phenomenon where the same disease phenotype can be caused by different mutations at different sites

A

Locus heterogeneity

72
Q

Phenomenon where the same phenotype can be caused by multiple different mutations at the same site

A

Allelic heterogeneity

73
Q

Inheritance pattern of familial frontotemporal dementia

A

Autosomal dominant

74
Q

Introduced the concept of endophenotypes

A

Gottesman and Shields

75
Q

Type of mutations seen in trinucleotide repeat disorders

A

Dynamic mutations

76
Q

Conditions associated with copy number variations

A

Autism
Schizophrenia
Idiopathic learning disability

77
Q

Assumptions made by the Hardy-Weinberg principle

A 
No mutations occur
No migration occurs
Random mating occurs
Population is large enough to compensate for genetic drift
No natural selection occurs
78
Q

Inheritance pattern which shows vertical transmission

A

Autosomal dominant

79
Q

Inheritance pattern which shows horizontal transmission

A

Autosomal recessive

80
Q

Inheritance pattern which shows knight’s move transmission

A

X-linked recessive

81
Q

Pattern where individuals with similar phenotypes mate together more often than would be expected by chance

A

Assortative mating

82
Q

Simple method to calculate the carrier frequency from the affected frequency for an autosomal recessive condition using the Hardy-Weinberg equation

A

Square root of the bottom number of the affected prevalence, then double the bottom number e.g. prevalence is 1/4900, square root is 1/70, carrier prevalence is 1/35

83
Q

Processes which explain most epigenetic variations found to date

A

DNA methylation

Histone modification

Genetics (9 decks)

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