Genetics LO Flashcards

1
Q

Describe the structure and function of DNA

A
  • Long molecules
  • Double stranded made of two chains of nucleotides
  • nucleotide consists of three subunits: sugar, phosphate, base
  • contains genetic material
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2
Q

Describe the structure and function of RNA

A
  • made of ribose sugar, phosphate, base
  • A, U, G, C
  • present in all living cells
  • structurally similar to DNA but is single stranded
  • involved in regulating gene expression
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3
Q

Describe the structure and function of genes

A
  • made of bases known as codons
  • each codon has a protein
  • full set of genes = genome
  • decoded by transcription and translation
  • code for organisms individual characteristics
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4
Q

Describe the structure and function of chromosome

A
  • tightly coiled strand of DNA around a histone
  • most cells contain 46 chromosomes, 23 pairs
  • paired copies of genes = homologous chromosomes
  • sex cells = haploid
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5
Q

Define the term allele

A

Multiple versions of the same chromosome

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6
Q

Define the term locus

A

The place on the chromosome when the gene is located

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7
Q

Define the term genotype

A

The genetic constitution of an organism

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8
Q

Define the term phenotype

A

The observed characteristic coded for by the genotype

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9
Q

Define the term homozygous

A

When two chromosomes are the same

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10
Q

Define the term heterozygous

A

When the two chromosomes are different

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11
Q

Define the term dominance

A

Only one allele is required for the characteristic to be expressed in the phenotype

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12
Q

Define the term recessive

A

Both alleles are are required for the characteristic to be expressed in the phenotype

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13
Q

Define the term co-dominance

A

Both alleles are dominant to a degree and are both expressed in the phenotype

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14
Q

Define the term homologous chromosomes

A

Paired copies of the same chromosome

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15
Q

Define the term mutation

A

An alteration of bases in the genetic code

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16
Q

Define the term autosomal

A

Chromosomes which aren’t sex chromosomes

17
Q

Define the term sex chromosomes

A

Chromosomes that determine your sex, can carry other sex linked characteristics

18
Q

Rules for a Punnett square

A

1) write (diploid) genotype of adult of box (usually female on top)
2) write possible genotype
3) write combination in each box to represent

19
Q

Define the term polygenic

A

Most often several genes are responsible for any given trait

20
Q

Define the term multifactorial

A

When a number of genetic and environmental factors affect the characteristic expressed by the gene

21
Q

Differentiate between mitosis and meiosis

A

Mitosis - occurs in all organisms, creates body cells, one cell division, no recombination or crossing over, produces 2 diploid identical daughter cells
Meiosis - occurs in animals, plants + fungi, creates sex cells, two cell divisions, recombination/crossing over in prophase, produces 4 haploid cells, genetically different
Both - creates new cells, follow same steps, begin with one parent cell

22
Q

Describe antenatal screening tests and their relevance to genetics: sickle cell trait, thalassaemia, Down syndrome, neural tube defects

A
  • Antenatal screening tests find out if your baby has a higher chance of having a genetic condition
  • Can be a range of tests including: blood tests and ultrasounds
23
Q

Describe the role of the genetic counsellor and the specialist service

A

A genetic counsellor gives you information about how genetic conditions might affect you or your family