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UCLMS Yr 1 Mod 1: Foundations of Health and Medical Practice > Genes and Inheritance > Flashcards

Genes and Inheritance Flashcards

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USMLE® Step 1 flashcards
1
Q

What are the stages of mitosis

A

Interphase, Prophase, Metaphase, Anaphase and Telophase

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2
Q

What happens in interphase

A

Chromosomes are diffuse (uncondensed and not visible)
RNA and protein synthesis
DNA Synthesis during S Phase
Cell Growth

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3
Q

What happens in prophase

A

replicated chromosomes become visible
comprised of sister chromatids joined by centromeres
the nuclear membrane breaks down
centrioles move to opposite poles, with spindle fibres produced between them

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4
Q

what happens in metaphase

A

chromosomes attach to the spindle fibres by the kinetochores
line up in the equator of the spindle
chromosomes are now at the most condensed state and visible

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5
Q

What happens during anaphase

A

centromeres divide

sister chromatids pulled apart to the poles by connecting spindle fibres

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6
Q

what happens during telophase

A

nuclear membranes reform
the chromosomes decondense
the daughter cells return to interphase

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7
Q

why have chromosomes condensed

A

serve to manoeuvre DNA through cell division

all the cell to avoid getting knotted DNA

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8
Q

What untangles DNA and how

A

topoisomerase

briefly cut and rejoin DNA

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9
Q

What are somatic cells (chromosomal speaking)

A

Diploid

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10
Q

What are germ cells (chromosomal speaking)

A

Diploid or haploid

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11
Q

What is meiosis

A

the reduction of chromosomal numbers from diploid to haploid

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12
Q

What are the stages of meiosis

A

Prophase I
Metaphase I
Anaphase I
Telophase I

Prophase II
Metaphase II
Anaphase II
Telophase II

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13
Q

What is a leptotene

A

when chromosomes first become visible as thin threads within the nucleus

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14
Q

What is a zygotene

A

the homologous pairs of chromosomes which become closely associated along their lengths by a process called synapsis, to form bivalents

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15
Q

what is a pachytene

A

synapsis is complete and the bivalents are held together throughout their length by a structure known as the synaptonemal complex

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16
Q

What is recombination

A

Homologous chromosomes cross over and swap homologous sections of their DNA

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17
Q

what is diplotene

A

the homologous chromosomes appear to repel each other and remain her together only at chiasmata and at the centromere

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18
Q

what is the chromosomal number during prophase II, metaphase II and anaphase II

A

haploid

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19
Q

What happens during the second mimic division in the egg

A

the second mitotic division is not complete until fertilisation, and is very unequal, giving the mature egg and a small polar body

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20
Q

What are Mendel’s two laws

A

Segregation of characterises

Independant assortment

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21
Q

What is segregation of characteristics

A

when a pair of characteristics that is only represented in one gamete

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22
Q

What is genetic dominance

A

when a gene for a characteristic has one dominant allele which stresses the manifestation of the second recessive allele

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23
Q

What is an example of an autosomal recessive disease

A

Cystic Fibrosis

24
Q

What are 3 examples of autosomal dominant diseases

A

Tuberous sclerosis
Neurofibromatosis
Retinoblastoma

25
Q

What is Independent Assortment

A

Two characteristics that are inherited independently

26
Q

What does it mean to describe genes as linked

A

They are located near each other on a chromosome

27
Q

What is Sex Linkage

A

Genes that are carried and inherited via the X and Y chromosomes

28
Q

Why are males more affected by sex-linked diseases

A

Males are homozygous, and so recessive alleles manifest themselves in the male phenotype

29
Q

What are 3 key features of an X-linked recessive pedigree

A

Clusters of affected males
Affected males connected through unaffected females
No male to male transmission

30
Q

What are the two Hardy-Weinberg Equilibrium equations

A

p + q = 1

p^2 + 2pq + q^2 = 1

31
Q

What are the 5 conditions of Hardy-Weinberg

A 
Infinite population
Random mating
No selection pressures
No new alleles by mutation
No net migration into/out of population
32
Q

What is the human karyotype

A 
44 autosomes (22 pairs)
2 sex chromosomes
33
Q

When are chromosomes most condensed and visible

A

during metaphase

34
Q

What are DNA molecules wrapped around

A

Histone proteins

35
Q

What is a histone wrapped with DNA called

A

Nucleosome

36
Q

What is a bundle of nucleosomes called

A

Chromatin Fibre

37
Q

What do Chromatin Fibres bind to

A

Scaffold

38
Q

What does loops of chromatin fibre form

A

Chromatid

39
Q

What are two chromatids joined together called

A

Sister Chromatids

40
Q

What hold the sister chromatids together

A

The centromere

41
Q

What are the names of the different grooves in DNA

A

Major and Minor Groove

42
Q

What are telomeres

A

Short tenderly repeating sequences that prevent DNA fusing and karyotype re-arrangement
Maintain the length of the germ-line cells

43
Q

What natural process causes shortening of telomeres

A

Ageing

44
Q

What is X inactivation

A

When a maternal chromosome condenses, silencing the gene

45
Q

What are the 4 stages of the cell cycle

A

G1
S
G2
M

46
Q

What does a gene consist of

A

All DNA sequences necessary to produce a single polypeptide or RNA product

47
Q

Simply, what is Transcription

A

DNA -> mRNA

48
Q

Simply, What is translation

A

mRNA -> Protein

49
Q

What 3 areas of a gene are unique to eukaryotic cells

A

Promoter region
exons
introns

50
Q

What is the genetic locus

A

A specific position or location on a chromosome

51
Q

What is an Allele

A

An alternate version of a DNA nucleotide sequence that may be t a given locus

52
Q

What is Diploid

A

Having maternal and paternal homologous chromosomes

53
Q

What is haploid

A

having only one of the two homologous chromosomes

54
Q

What is homozygous

A

Having the same alleys at a genetic sequence

55
Q

What is heterozygous

A

having different alleles at a genetic locus

56
Q

What is dominant

A

traits that are expressed in heterozygotes

57
Q

What are recessive traits

A

Traits that are expressed only in homozygotes

UCLMS Yr 1 Mod 1: Foundations of Health and Medical Practice (6 decks)

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