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Phase 1 > Inheritance > Flashcards

Inheritance Flashcards

1
Q

What are the 3 causes of disease?

A

Genetic, environmental, multifactorial

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2
Q

What is polymorphism

A

Variant in allele that does not cause disease but may effect efficiency of protein action.

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3
Q

What is a genomic disorder?

A

A condition that results from structural changes to geneome rather than DNA base change.

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4
Q

What is mitochondrial inheritance?

A

All inherited from maternal side, and has no male transmission.

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5
Q

What is imprinting/ lionisation?

A

Only 1 of 2 alleles are active. Recessive alleles expressed even if heterozygous. A carbohydrate group is added to enhancer or promoter to inactivate gene.

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6
Q

What is reciprocal translocation?

A

Transfer of genetic material from one chromosome to another

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7
Q

What is robertsonian translocation?

A

Chromosomes joined to form one large chromosome

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8
Q

What is an inversion? What are the 2 types?

A

Segments of 1 chromosome reverted. Pericentric: Around centromere, Paracentric: involves 1 arm

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9
Q

What are ring chromosome abnormalities?

A

Ends of chromosomes break off and stick together (deleted telomeres)

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10
Q

What is fragile X?

A

An X chromosome with a gap which is likely to break.

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11
Q

What is polypolide?

A

Additional set of chromosomes e.e. triploidy 69

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12
Q

What is aneuploidy?

A

Having missing or extra chromosomes

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13
Q

What is sex monosomy?

A

X inactivation

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14
Q

What is sex trisomy?

A

Extra X or Y chromosome

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15
Q

What is gonadal mosaicism?

A

Mutation occurs in embryo cells . Risk increases with increasing paternal age and if the parent is healthy, the foetus may have a genetic disease.

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16
Q

What is somatic mosaicism?

A

Genetic disorder confined to part of the body due to mutation in early development

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17
Q

What are environmental factors of DNA damage?

A

Radiation, viruses, thermal, mutagenic chemicals

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18
Q

What is an out of frame deletion?

A

Single or 2 base deletion which leads to frame shift and can cause non-functional proteins

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19
Q

What is an in frame deletion?

A

Loss of an entire codon, loss of an amino acid from protein. Often little to no effect

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20
Q

What are splice site mutations?

A

Affects removal of introns, splice acceptor site changes and is no longer recognised by the enzyme. Intron sequence not removed and so is translated into the protein

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21
Q

What is a non sense mutation?

A

Changes a codon to a stop codon due to substitution or frameshift. RNA detaches from ribosome too early so protein synthesis is not completed. (Premature termination of stop codon)

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22
Q

What is missense mutation?

A

A single base substitution, may or may not be pathogenic, may be a polymorphism

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23
Q

What is trinucleotide repeats?

A

Genetic disease caused by large numbers of codon repeats. Noticeable by anticipation.

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24
Q

What is haploinsufficiency?

A

When a diploid organism has only 1 functional copy of a gene which doesn’t produce enough of a gene product- leading to disease.

25
Q

What is gain of function mutation?

A

Increased gene dosage, increased protein activity leading to accumulation of protein.

26
Q

What are dominant-negative mutations?

A

Mutation in heterozygous gene which results on loss of protein activity. Protein from the varient allele interfers with the protein from the normal allele.

27
Q

What is a de novo mutation?

A

Mutation in germ cell which is not inherited and can’t be detected in bloodstream of parent.

28
Q

What are interstitial and terminal deletions?

A

Interstitial: Within chromosome arm, Terminal: end of a chromosome

29
Q

What is a fragile cite?

A

Where sections of chromosomes are broken.

30
Q

What is allelic heterogeneity

A

different variants at a single gene locus cause the same or similar phenotypic expressions of a disease.

31
Q

What is the most common AR condition and what is the carrier frequency?

A

Cystic Fibrosis, 1/25

32
Q

Examples of genetic diseases?

A

Downs syndrome, cystic fibrosis, Huntington’s disease, haemophilia.

33
Q

Examples of multifactorial diseases?

A

Spina bided, cleft lip, diabetes, schizophrenia

34
Q

Examples of environmental disease causes?

A

Poor diet, infection, drugs, accidents

35
Q

What is autosomal?

A

Chromosomes not including sex chromosomes.

36
Q

What is a duplication mutation? What are the 2 types?

A

Portion of a chromosome duplicated. Tandem: Same direction, Inverted: Goes the opposite way.

37
Q

What genetic test can determine identitiy?

A

Genetic finger printing

38
Q

What is chromosome analysis

A

a test to look at the chromosomes in a sample of cells. It can help identify genetic abnormalities as the cause of a condition or disease. The test can count the number of chromosomes present, and look for any structural abnormalities in the chromosomes.

39
Q

What is chromosomal microarray?

A

looks for extra (duplicated) or missing (deleted) chromosomal segments.

40
Q

What is FISH?

A

a test that “maps” the genetic material in a person’s cells. This test can be used to visualize specific genes or portions of genes. A probe made of DNA will bind to the gene, which can pick up deletions/ duplications.

41
Q

What is single gene sequencing?

A

A probe can pick up the individual gene of interest.

42
Q

What is targeted mutation analysis:

A

targeted to detect a specific variant or mutation, and picks up a limited range of known nucleotide changes.

43
Q

What are multi-gene panels?

A

looks for mutations in several genes at once. It sequences for around 20 genes and is very common.

44
Q

Whole exome/ genome sequencing?

A

Detects slighter variations and figures out the order of DNA nucleotides or bases.

45
Q

What is microarray testing?

A

Finds out if you have a medical condition cases by a missing or extra piece of chromosome material. A probe of DNA can bind to every portion of the genome and tells you where abnormalities are.

46
Q

What is next generation sequencing?

A

Can sequence the whole genome in 1 day and identifies variants.

47
Q

What is sanger sequencing?

A

High quality sequence for relatively long stretches on DNA. Usually used to sequence individual pieces of DNA.

48
Q

What is an ideogram?

A

Shows you where you expect to see each band on a chromosome.

49
Q

Multifactorial conditions and family studies?

A

Risk of family being affected is higher than general population.

50
Q

Multifactorial conditions and twin studies?

A

If genetic, MZ twins would have a higher risk.

51
Q

What is NIPT?

A

None invasive prenatal testing

52
Q

What is anticipation?

A

A genetic disorder affects successive generations easier/ more severe.

53
Q

What is locus hetrogeneity?

A

Varients in different genes give the same clinical condition.

54
Q

What is an example of an autosomal dominant condition?

A

Huntington’s disease.

55
Q

What is an exaple of an autosomal recessive condition?

A

Cystic Fibrosis

56
Q

What is an exaple of an X-Linked condition?

A

Duchenne muscular dystrophy

57
Q

What is dysplasia?

A

Abnormal cellular organisation/ function within specific tissue type.

58
Q

What is malformation?

A

Failure of adequate completion of one or more of the embryonic processes e.g. neural tube defect.

Phase 1 (4 decks)

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