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PMP101 > Genetics > Flashcards

Genetics Flashcards

1
Q

What is genetics ?

A

-The study of heredity in general and genes in particular

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2
Q

What is heredity ?

A

-The passing of traits from parent to offspring

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3
Q

Why did Mendel use pea plants?

A

-Easy to cultivate, available in many varieties, produce large number of offspring, strict control over mating/breeding

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4
Q

What is true breeding?

A

-When plants self-pollinate and all their offspring are of the same variety

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5
Q

What is hybridisation?

A

-Mating or crossing of two varieties

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6
Q

What is a monohybrid cross?

A

-A cross between two parents that breed true for different versions of a single trait

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7
Q

What did Mendel do?

A

-Cross pollinated two true breeding varieties studying one trait at a time, then recorded the inheritance of the chosen trait in the next generation, then allowed the F1 plants to self fertilise and observed F2

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8
Q

What is a homozygous gene?

A

-Gene possessing two identical alleles

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9
Q

What is a heterozygous gene ?

A

-Gene possessing two different alleles

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10
Q

What does Mendel’s law of independent assortment state?

A

-During gamete formation, different pairs of alleles segregate independently of one another

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11
Q

What is a genetic disease?

A

-A disease that is caused by an abnormality in an individuals DNA

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12
Q

What are the 4 types of genetic disorders?

A

-Single gene defects, chromosome abnormalities, multifactorial disorders, cancer

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13
Q

What is cancer?

A

-Progressive accumulation of mutations in different genes and different chromosomes abnormalities, usually in somatic cells

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14
Q

What are single gene disorders?

A

-Caused by changes or mutations that occur in the DNA sequence of a single gene, producing either an altered protein or no protein at all

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15
Q

What can single gene disorders lead to?

A

-Gain of function loss of function which result in a protein alteration or deficiency responsible for disease symptoms

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16
Q

What are the different mechanisms of inheritance?

A

-Autosomal dominant, autosomal recessive and X-linked recessive or dominant

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17
Q

What is an autosomal dominant mechanism?

A

-A single mutated allele is sufficient to cause the disease (heterozygous)

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18
Q

What is an autosomal recessive mechanism?

A

-Where both mutated alleles must be inherited to be affective (homozygous)

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19
Q

What is x-linked recessive or dominant?

A

-Mutated gene is present on the X chromosome

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20
Q

How do missense mutations alter coding in genes ?

A

-Base changes that alter the codon for an amino acid resulting in its replacement with a different amino acid

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21
Q

How do nonsense mutations alter coding in genes?

A

-Base changes that convert an amino acid codon to a stop codon resulting in premature termination of translation

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22
Q

What are silent mutations?

A

-Do not cause any change in an amino acid

23
Q

What are frameshift mutations?

A

-Result from the insertion or deletion of one or more bases causing the alteration of the reading frame of the gene and a different set of codons leading to an altered ….

24
Q

What can chromosome abnormalities be classified into ?

A

-Numerical and structural

25
Q

What are numerical abnormalities ?

A

-When an individual is missing either a chromosome from a pair (monosomy) or has more than two chromosomes in a pair (trisomy)

26
Q

What are structural abnormalities ?

A

-When the chromosomes structure is altered

27
Q

What is euploid?

A

-Normal number of chromosomes

28
Q

How is aneuploidy caused?

A

-Nondisjunction events in meiosis

29
Q

What is mosaicism?

A

-The presence of two or more cell lines with different chromosome compositions in an individual

30
Q

What can changes in chromosome structure cause?

A

-Deletions
-Duplications
-Inversions
-Translocations

31
Q

What is a deletion ?

A

-Loss of a chromosome segment

32
Q

What is a duplication?

A

-Repeats of a segment

33
Q

What is inversion?

A

-Where a portion of the chromosomes has broken off, turned upside down and re-attached so genes occur in reverse order

34
Q

What is a translocation mutation?

A

-A portion of one chromosome is transferred to another, can be reciprocal

35
Q

What are multifactorial disorders?

A

-Diseases that show familiar clustering but do not conform to any recognised pattern of single gene inheritance

36
Q

How are multifactorial disorders determined?

A

-The additive effects of many genes at different chromosomes together with the effect of environmental factors

37
Q

What is an example of multi factor disorders?

A

-Diabetes, hypertension, obesity

38
Q

What are the fundamental properties of cancer cells?

A

-Unregulated cell proliferation and metastatic spread

39
Q

How does activation of oncogenes contribute to cancer?

A

-Proto-oncogenes become switched on and become hyperactive oncogenes

40
Q

What do promo-oncogenes do?

A

-Stimulate cell division in response to specific signals

41
Q

How does inactivating tumour suppressor genes contribute to cancer?

A

-In normal cells they block cell division at checkpoints of they are not ready and initiate apoptosis but in cancer cells this is permanently switched off

42
Q

What happens in cancer cells that causes uncontrolled cell growth?

A

-Unable to stop cell cycle and enter G0 even with DNA damage and programmed cell death pathways are also inhibited

43
Q

What are genetic polymorphisms ?

A

-Two or more existing different forms of DNA sequences in a certain gene within a population (at least 1%)

44
Q

Where are polymorphisms found?

A

-Outside genes in DNA sequence that does not code for proteins

45
Q

What are the functions of polymorphisms ?

A

-Determine the diversity of individuals and sometimes have a role in drug response, forensics or could represent risk factors for multi factor disease

46
Q

What is gene expression?

A

-When a gene is turned on so protein synthesis occurs

47
Q

What is epigenetic?

A

-The process of turning genes on or off

48
Q

What does a histone and acetyl do?

A

-Acetylation-lowers attraction so DNA unwinds so open access to DNA strand is present

49
Q

What happens to DNA when deacetylation occurs ?

A

-DNA is lock tight

50
Q

What happens when there is one methyl group on a histone?

A

-Decreases attraction so unwinds DNA so DNA replication can take place

51
Q

What happens if there is two or more methyl groups on a histone?

A

-DNA will repress and be lock tight so gene expression can not occur

52
Q

What can adenosine be changed for during RNA editing?

A

-Inosine

53
Q

What can cytosine be changed for during RNA editing?

A

-Uracil

54
Q

How is a gene turned on?

A

-Enhancer is activated by the activator and bend over to the transcription factor

PMP101 (23 decks)

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