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CMP > KB Genetics > Flashcards

KB Genetics Flashcards

1
Q

Two types of chromosomal abnormality

A

Structural and numerical

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2
Q

What did a mitogen to stimulate cell division

A

Phytohameagglutinin

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3
Q

What is a metaphase block

A

Colchicine

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4
Q

How is banding produced and what does it identify

A

Trypsin breaking down some of the proteins associated with certain chromosomes that give specific banding patterns

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5
Q

What can FISH be used for

A

Whole chromosome pains and viewing reciprocal translocations

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6
Q

What is polyploidy?

A

When an egg is fertilised by 2 sperm = triploid = lethal

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7
Q

Trisomy 21, 18, 13

A

Downs, Edwards, pataus

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8
Q

How does risk of having a child with Down’s syndrome increase with maternal age

A

40 = 1/50

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9
Q

Cri-du-chat syndrome

A

5p deletion

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10
Q

Wolf-Hirschhorn syndrome

A

4p deletion

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11
Q

Mitochondrial defects can be homoplasmic and heteroplasmic what does this mean?

A

Homoplasmic - identical DNA, mutation is all copies of mitochondrial DNA
Heteroplasmic - mutation in some copies, so defect may not be passed onto offspring

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12
Q

What is LOHN?

A

Mutation in NADH dehydrogenase

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13
Q

Leigh’s syndrome

A

Mutation in ATPase synthase molecule

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14
Q

Pearsons syndrome

A

Deletion of mitochondrial DNA

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15
Q

Penetrance

A

Chance of inheriting a disease if you carry a mutation

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16
Q

Expressivity

A

Variation in phenotype in affected individuals

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17
Q

Genomic imprinting

A

Expression of alleles depends on which parent inherited from. Due to epigenetic factors.

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18
Q

Hardy Weinburg principle

A

Equation p=A and q=a

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19
Q

What are all the germline types of genetic defect?

A

Chromosomal, mitochodrial, monogenic, polygenic

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20
Q

Autosomal dominant, all bullet points

A

Affects both sexes, traceable, heterozygous affected, half offspring, gain of function. Huntingtons, dwarfism, hereditary retinoblastoma

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21
Q

Autosomal recessive, all bullets

A

Both sexes, not traceable, homozygous, heterozygous are carriers, quarter of offspring affected, loss of function. Sickle cell anaemia, thalassaemia, cystic fibrosis.

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22
Q

Xlinked recessive

A

Only males affected, traceable, hemizygous female carrier, half sons affected, loss of function. Haemophilia and duchenne muscular dystrophy.

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23
Q

What is classical genetics?

A

Phenotype to genotype

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24
Q

What is positional genetics

A

Genotype to phenotype

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25
Q

1% recombination frequency is how many cM

A

1

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26
Q

What does a LOD score have to be higher than to indicate linkage?

A

3

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27
Q

If genes are physically close they are…

A

Co-inherited

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28
Q

To tell chromosomes apart use

A

Polymorphic markers

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29
Q

Polymorphic markers include:

A

Restriction fragment length polymorphisms
Variable number tandem repeats (minisatellites)
Microsatellites (di, tri and tetranucleotide repeats)
Single nucleotide polymorphisms (occur around every 300 bp)

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30
Q

Process of pre genome project genome mapping:

A

Develop regional genetic map
Use markers to select genomic clones
Produce contig map of the region
Search for genes using CpG Islands, zoo blots, Northern blots, cDNA library scanning

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31
Q

Post genome project what has been made that makes searching for genes much easier?

A

Genetic and physical maps available with thousands of mapped genes and expressed sequence tags. Genes are able to be predicted from the genomic sequence which allow rapid identification of candidate genes.

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32
Q

To identify a disease gene in silico

A

Screen affected individuals for the mutation in the candidate genes, or just directly sequence

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33
Q

How does next gen sequencing work?

A

Sequence massive parallel sequencing of small fragments of DNA.

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34
Q

Cystic fibrosis symptoms and pathology

A

Defective secretory mechanisms which affects epithelial cells and causes thick mucus secretions

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35
Q

What are the symptoms of cystic fibrosis

A

Chronic lung disease, bowel obstruction, pancreatic failure, increase sweat electrolytes, blocked testes, premature death.

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36
Q

Cystic fibrosis is what type of genetic disease and affects how many people?

A

Autosomal recessive and affects 1/2000

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37
Q

Cystic fibrosis affects what protein?

A

Cystic fibrosis transmembrane conductance regulator which is a chloride channel and an ATP binding site.

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38
Q

The mutations causing CF are

A

70% ?F508 3bp deletion of phenylalanine

30% mutations in more than 60 other sites

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39
Q

What chromosome is CF on and when and how was it isolated?

A

Chromosome 7 isolated in 1989 by positional cloning and chromosome walking.

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40
Q

What gene is positionally linked to the CFTR gene?

A

MET gene

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41
Q

Duchenne muscular dystrophy is what type of genetic disorder?

A

X-linked recessive

42
Q

What are the symptoms of DMD?

A

Progressive muscle wasting and death pre 30

43
Q

What mutations cause DMD and Becker MD

A

Large deletions in the dystrophin gene causing absent or highly truncated protein - DMD
small deletions in the dystrophin gene causing partially truncated protein, more mild symptoms BMD

44
Q

What is the dystrophin?

A

It is a protein that is important in muscle repair as shown in mx mice it accounts for 0.002% of muscle protein that links acting to a protein complex in the plasma membrane.

45
Q

Which chromosome translocation can cause DMD in girls?

A

Xp21

46
Q

Symptoms of Huntingtons disease

A

Loss of personality, loss of coordination, spasmodic movements, vegetative state

47
Q

What age of onset is Huntingtons

A

Average 36

48
Q

What type of genetic disorder is Huntingtons

A

Autosomal dominant

49
Q

How many haplotypes of Huntingtons are they and what type of genetic feature causes it

A

4: A, B, C, D

RFLPs

50
Q

What genetics causes Huntingtons disease?

A

(CAG)n repeat which gives a poly glutamate run. n= 16-36 is normal, n= 42-56 is affected.

51
Q

Fragile X syndrome:

A

(CGG)n repeats n>200. Increased methylation which causes reduced transcription of the surrounding genes.

52
Q

Neurodegenerative disorders

A

(CAG)n n

53
Q

Myotonic dystrophy:

A

(CTG)n n=200-4000. Large expansion in the 3’ UTR that directly affects mRNA

54
Q

Friedrichs Ataxia:

A

(GAA)n n=200-900. Affects the protein mitochondrial frataxin and reduces its transcription.

55
Q

Haemoglobinopathies are inherited disorders of

A

Structure and synthesis of haemoglobin

56
Q

How do you form a) adult haemoglobin (two types)
B) foetal haemoglobin
C) embryonic haemoglobin
And their percentages in adults

A

A2B2 97-98%
A2D2 2-3%
A2G2

57
Q

What is the point mutation that can sickle cell anaemia

A

GAG to GTG

Glutamate to Valine

58
Q

What type of Hb disorder is caused by uneven crossing over

A

Hb Lepore

59
Q

What are the commonest group of single gene disorders

A

Thalassaemias

60
Q

What type of genetic disease are thalassaemias

A

Autosomal recessive

61
Q

Beta thalassaemia is not due to

A

Deletions

62
Q

Deltabeta thalassaemias result in

A

Persistence of foetal haemoglobin

63
Q

Epistasis is

A

When 1 gene is dependent on the presence of one or more modifier genes

64
Q

Genetic heterogenetiy is

A

Single phenotype/genetic disorder cause by multiple numbers of alleles or non allele mutations

65
Q

Liability model

A

All the contributing factors to a disease

66
Q

Heritability

A

The proportion of risk attributable to genetic factors

67
Q

Phenocopy

A

Within a family there may be a susceptibility factor for a polygenic disease, but the disease occurs only due to environmental factors rather than genetics.

68
Q

What locus is schizophrenia associated with and what are the problems of linkage analysis

A

Phenocopy and chromosome 6p which suggests an autoimmune aspect

69
Q

Type I diabetes is what onset and what type of disease

A

Early onset, autoimmune disease

70
Q

How can you identify type one diabetes

A

Nonparametric allele sharing, sib pair, whole genome scan, animal models

71
Q

How many loci are now identified for type one diabetes is and what type of genetic action is occurring

A

> 40 loci and HLA cluster is most important, autoimmune diseases. Epistasis and genetic homogeneity are observed

72
Q

Factors contributing to TIID

A

Diet and obesity

73
Q

How many loci associate with TIID

A

Around 30

74
Q

Lipid metabolism contributes to cardiovascular disease by

A

Familial hypercholesterolaemia and behaves like an AD, there is high serum cholesterol and mutation of the low density lipoprotein receptor gene, lipid met is very poor

75
Q

Hypertension is caused by:

A

Angiotensin - blood vessel constriction

Angiotensin converting enzyme = activated angiotensin, polymorphism is associated with risk of heart attack

76
Q

Three types of spongiform encephalopathy

A
  1. Creutzfeldt-Jacob disease
  2. Kuru
  3. Gerstmann-strausller disease
77
Q

Alzheimer’s pathology

A

Neurofibrillary tangles and amyloid protein deposits

78
Q

Symptoms of Alzheimer’s

A

Personality changes, memory loss, veg state, death

79
Q

Amyloid precursor protein

A

Chromosome 21, mutations in few early onset families

80
Q

Prenisilin 1 & prenisilin 2

A

Chromosome 14 and chromosome 1 mutations in early onset families

81
Q

Apolipoprotein E

A

Early and late onset forms, E2 & E3 are protective E4 gives increased Alzheimer’s risk

82
Q

Alzheimer’s beta and gamma secretases are

A

Possible drug targets

83
Q

Mosaics

A

More than one population of cells from the same genetic origin caused by non disjunction in embryogenesis, somatic/gonadal

84
Q

Chimeras

A

More than one population of cells of different genetic origin. Caused by dispermy or blood exchange in uterine between non-identical twins.

85
Q

Prenatal testing

A

Aminocentesis 16-18 weeks, removal of amniotic fluid and growth of foetal cells
Chorionic villus sampling, 11-12 weeks, remove chorionic villus, forms part of placenta
Both increased risk of miscarriage, both guided by ultrasound

86
Q

Neonatal testing

A

Heel prick test

87
Q

Molecular analysis involves

A

PCR based investigations of specific genes

88
Q

How to find point mutations

A

Amplification Refractory Mutation System: make PCR primers f or specific mutations

89
Q

DNA sequencing will pick up

A

New mutations and genes and unknown mutations

90
Q

Treatment of genetic disease

A

Conventional, environmental, metabolic, gene replacement, surgery, tissue & organ transplant, stem cell therapy

91
Q

Pleuripotent stem cells

A

Embryonic stem cells, can differentiate into any cells to create organs

92
Q

Multipotent stem cells

A

Can make many cell types (not all) from mesenchymal stem cells (in bone marrow)

93
Q

How is gene therapy carried out?

A

Potentially: gene replacement by targeted homologous recombination
Presently: add transgender and leave the defective gene

94
Q

In vivo gene therapy

A

Transgene introduced directly into the body

95
Q

Ex vivo gene therapy

A

Transgene introduced to cells outside the body and then inserted (transplanted back)

96
Q

Germline therapy is

A

Correct the defect in the game or embryo So that all the cells are corrected

97
Q

Somatic therapy

A

Only correct genes in defective cells/organ

98
Q

Vehicles to introduce a Transgene

A

Viral - retro, adeno, lenti, efficient, but safety problems, (elaborate)
Physical methods - liposomes or receptor mediated endocytosis or direct DNA injection - inefficient but safe
Problems are inducing and sustaining high level gene expression

99
Q

Targets of gene therapy

A

Bone marrow, liver, lungs, muscle (elaborate on all)

100
Q

What is an example of gene therapy inducing cancer

A

SCID curing with retroviral vectors causes leukaemia due to insertion all mutagenesis near LMO2

CMP (5 decks)

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