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Genetics Flashcards

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1
Q

What is deformation?

A

Distortion of a structure by mechanical force

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2
Q

What is dysplasia?

A

Abnormal organisation of tissue

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3
Q

What is malformation?

A

A morphological defect resulting from an intrinsic abnormal process.

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4
Q

What is disruption?

A

A morphological defect of an organ resulting from an extrinsic factor affecting normal development.

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5
Q

What is a ‘sequence’?

A

A pattern of multiple abnormalities initiated by a primary factor

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6
Q

What is a ‘syndrome’?

A

A consistent pattern of abnormalities which are pathogenically related and not representing a sequence.

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7
Q

What does association mean?

A

Non-random occurrence of clinical features in 2 or more people not explained by a sequence or syndrome

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8
Q

What is dysmorphism?

A

An unusual or abnormal physical feature

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9
Q

What is the name of the condition characterised by trisomy 13

A

Patau’s syndrome

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10
Q

What is the name of the condition characterised by trisomy 18

A

Edward’s syndrome

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11
Q

What is the name of the condition characterised by trisomy 21

A

Down’s syndrome

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12
Q

What are monosomy and trisomies examples of?

A

Aneuploidies

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13
Q

Define homozygous

A

Both alleles of a particular gene are the same

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14
Q

Define heterozygous

A

There are different alleles on a particular gene

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15
Q

What is penetrance?

A

Individuals with disease who display the phenotype (symptoms and signs)

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16
Q

How will you be able to tell disease is autosomal dominant from pedigree chart?

A

There is an affected individual in each generation of pedigree

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17
Q

What is genetic imprinting?

A

Genes are expressed differently depending on whether they came from the mother or father

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18
Q

What causes Prader-Willi syndrome?

A

Loss of chromosome or lack of expression from paternal copy on long arm of chromosome 15

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19
Q

Define Heteroplasmy

A

There is a mixture of normal and abnormal mitochondria present in the same cell. Proportion affects how disease presents

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20
Q

What are the two classes of cancer gene:

A

Oncogenes and Tumour suppressor genes

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21
Q

When will tumour suppressor genes become malignant?

A

When both alleles are inactivated

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22
Q

What percentage of cancers are usually inherited?

A

1%

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23
Q

What is the philadelphia chromosome?

A

A product of the translocation between chromosomes 9 and 22

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24
Q

What is heritability?

A

The proportion of variance due to genetic effects. The genetic contribution to an increased risk of disease.

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25
What is tetrasomy?
Gain of 2 chromosomes
26
What is mosaicism?
Where different cells in the same individual have different numbers or arrangements of chromosomes
27
What is Turner's syndrome?
Loss of X or Y in paternal meiosis. Monosomy X.
28
What is a polymorphism?
Mutation in >1% frequency of population
29
What type of mutations are insertion/deletions?
Frameshift mutations
30
Give an example of an X-linked recessive condition and what we mean by X-linked recessive?
Haemophilia. The allele is transferred by female carrier. As it is recessive it can only present in females who carry two copies of the recessive gene, or males who carry the recessive gene on the X chromosome.
31
Define Incomplete penetrance
Symptoms are not present in person affected by disease
32
What is Angelman syndrome?
Loss of maternal chromosome or lack of its expression on chromosome 15
33
What is the most common disorder of fatty acid oxidation?
MCADD = Medium chain Acyl co-A dehydrogenase deficiency
34
What is the difference between drive and passenger mutations?
Passengers do not contribute to Cancer growth whereas driver mutations do
35
What is hybridisation stringency?
The power to distinguish between related sequences
36
What four things are required in PCR?
DNA template strand, dNTPs, thermostable DNA polymerase and oligonucleotide primers
37
Name x3 places where PCR may be used
Detecting point mutations, making genetic markers, DNA sequencing.
38
Name two types of frameshift mutations
Insertion and deletion
39
Name x2 features of Huntington's disease
Hyperkinesia and abnormal movements
40
What is genetic anticipation?
Individuals further down a generation line have a higher severity in symptoms and can have earlier onset of disease
41
How many combinations are there for DNA triplets?
64
42
What is maternal imprinting?
If gene is passed on from mother to daughter, allele will be inactivated. If gene is passed on from mother to son, gene will be expressed.
43
What is genomic imprinting?
The determination of an affected gene being passed on from parent to offspring.
44
Name x2 imprinting disorders
Prader Willi Syndrome and Angelman syndrome.
45
What mechanism can cause variation in the phenotype of a mitochondrial inherited disease?
Heteroplasmy.
46
What is heteroplasmy?
Different proportions of mitochondria are affected in cells.
47
What is homoplasmy?
All normal mtDNA or all mutated mtDNA.
48
What is penetrance?
The probability of expressing a phenotype given a genotype.
49
Name x2 mitochondrial diseases
MELAS and LHON.
50
Can females be affected by X linked recessive conditions?
Yes, although rare; Father would have to have the disease and mother would have to be a carrier.
51
Which mutations are more common - somatic or germline?
Somatic mutations.
52
What is the 'two hit' hypothesis?
Both alleles have to be mutated for the gene to be inactivated.
53
Which two cancers increase the risk of colorectal cancer?
FAP - Familial adenomatous polyposis and HNPCC - hereditary non-polyposis colorectal cancer.
54
What does CML cause?
Overproduction of granulocytes.
55
When is the nuchal translucency test usually performed?
At 12 weeks.
56
Which are the two markers measured in pregnancy testing?
hCG and PAPP (pregnancy associated plasma protein).
57
Which form of Diabetes is more common? Monogenic or polygenic? What is the difference?
Polygenic Diabetes is more common and is more influenced by environmental factors. Those with monogenic diabetes are 100% likely to have the disease.
58
Name x2 characteristics of MODY
Monogenic disease and autosomal dominant.
59
Name the four single congenital abnormalities.
Malformation, dysplasia, deformation, disruption.
60
What are the 3 different chromosome aberrations which can lead to Down's syndrome?
Translocation, mosaicism and trisomy.
61
Define dosage compensation.
Mechanisms to ensure equal gene expression in males and females.
62
Name x3 things which can cause disruption as a congenital abnormality.
Trauma, infection, ischaemia.
63
Translocation is what type of chromosomal abnormality?
Structural
64
Are translocations normal?
Yes unless they cause disruption to the gene e.g. fusion product between chromosome 9 and 22.
65
What is disomy?
2 chromosomes. Normal!
66
Down's syndrome is strongly associated with increased maternal age. True or false.
True.
67
In which case of Down's syndrome will all offspring be affected?
21q:21q.
68
Are children more or less severely affected in inheriting a disease through mosaicism?
Less.
69
Klinefelter syndrome is typically seen in which gender?
Males
70
Klinefelter's syndrome is typically seen in which gender?
Males
71
How may an individual be genotypically male but phenotypically male?
Translocation in the SRY gene from the Y to the X of the female. The female will appear male if she has the SRY on one of the XX chromosomes.
72
Huntington's disease, Cystic fibrosis and Haemophilia are all examples of what kind of disease?
Monogenic disorders.
73
Define mutation
A heritable change in DNA sequence.
74
There is a cure for Huntingdon's disease. True or false?
False. There is no cure.
75
What is the most common mutation causing Cystic fibrosis?
Deletion mutation.
76
A CFTR mutation can cause which two diseases?
Cystic Fibrosis and Congenital absence of Vas Deferens (CAVD).
77
In X linked recessive conditions, which gender is affected?
Only males. Females can only be carriers.
78
What is the difference between Haemophilia A and B
A: Mutation in F8 gene on chromosome X. = lack in production of Factor VIII. B: Mutation in F9 gene on chromosome X = lack in production of Factor IX. Haemophilia A is more common.
79
Which process underlies genomic imprinting?
DNA methylation.

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