The Genetic Basis of Complex Inheritance Flashcards

1
Q

Mendelian Inheritance

A

The Law of Dominance
The Law of Segregation
The Law of Independent Assortment

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2
Q

Non-Mendelian Inheritance

A

Does not fit in with Mendelian’s Law

Several variants in several genes acting together

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3
Q

Pattern of Non-Mendelian Inheritance

A
Incomplete Penetrance
Genomic imprinting
Extranuclear Inheritance
Anticipation 
Complex
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4
Q

Incomplete Penetrance

A

Environmental factor

Genetic Modifiers

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5
Q

Genomic Imprinting

A

Variants from parents
Genes from only one chromosome is expressed
Dominance is meaningless

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6
Q

Extranuclear Inheritance

A

Mitochondrial mutations

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7
Q

Anticipation

A

Triplet repeat expansion

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8
Q

Complex

A

Multi-genic risk

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9
Q

Penetrance

A

the frequency with which a trait is manifested by individuals carrying the gene

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10
Q

100% Penetrance

A

Cystic Fibrosis

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11
Q

50% Penetrance

A

Ovarian Cancer

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12
Q

Genetic Modifiers

A

Genes that have small quantitative effects on the level of expression of another gene

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13
Q

Environmental Factors

A

Lifestyle, Diet, Smoke, Alcohol, Drugs, Stress, Air Pollution, Chemicals, Infection

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14
Q

Epigenetic Modifications

A

Heritable changes in gene function that cannot be explained by changes in DNA sequence

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15
Q

Methylation

A

Addition of a methyl group to DNA. Can change the activity of the DNA without changing the structure

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16
Q

Uniparental Disomy

A

Inheritance of a chromosome pair from one parental origin and no copy from the other parent

17
Q

Gynogenic

A

2 maternal genomes
Mass of embryo
Ovarian teratoma

18
Q

Androgenic

A

2 Paternal genomes
Mass of placenta
Hydatidiform

19
Q

Human models of imprinting disorders

A

Angelman Syndrome

Prader-Willi Syndrome

20
Q

Angelman Syndrome (4)

A

Epilepsy
Mental retardation
Awkward Gait
Inappropriate laughter

21
Q

Prader-Willi Syndrome (4)

A

Hypotonia
Mental retardation
Short stature
Marked obesity

22
Q

Chromosomal region for AS and PWS

23
Q

Mitochondrial Inheritance

A

Maternal

Paternal is destroyed during fertilisation

24
Q

Heteroplasmy

A

Mitochondira that have a mutation in the mtDNA and some that do not

25
Homoplasmy
Cell that has a uniform collection of mtDNA (either all normal mtDNA or completely mutant mtDNA)
26
Mitochondrial Disease affects____
Tissues with high metabolic demand
27
Mitochondrial Myopathies
MERRF, MELAS, CPEO, LHON, Leigh's Syndrome, DAD
28
Three parent baby
Healthy nuclear DnA removed from mother Transported into donor egg with healthy mitochondrial DNA Reconstructed egg fertilised with sperm and implanted
29
Anticipation- Triplet Repeat Expansion
Disease presents at earlier age and/or increasing severity in succeeding generations
30
Examples of triple repeat disease
Huntington's disease Myotonic dystrophy Fragile X syndrome
31
Multigenic/Complex Inheritance is often seen in
heart disease, breast cancer, autism
32
Multigenic/Complex Inheritance consist of
Multiple low penetrance variants