Genetics Flashcards

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1
Q

Define gene

A

A sequence of bases on DNA molecule that codes of a protein, resulting in a characteristic

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2
Q

Define allele

A

Different versions of a gene, slightly different nose sequence, different version of characteristic

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3
Q

Genotype

A

The alleles someone has

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4
Q

Phenotype

A

Characteristics displayed by an organism

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5
Q

Dominant

A

Displayed with capital letter

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6
Q

Recessive

A

Only appears on phenotype if two copies are present

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7
Q

Define incomplete dominance

A

When trait from dominant isn’t completely shown over trait from recessive

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8
Q

Define homo(same)zygote

A

Organism that carries two copies of same allele for certain characteristic

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9
Q

Hetero(different)zygote

A

Carries two different alleles for certain characteristic

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10
Q

Define carrier

A

If recessive allele can cause disease, a carrier is someone who has one dominant and so won’t have disease but carry a copy

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11
Q

What do genetic diagrams show

A

Possible alleles of offspring

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12
Q

Define monohybrid inheritance

A

Inheritance of single characteristic controlled by different alleles

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13
Q

Define mutation

A

Changes to base sequence of DNA

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14
Q

What causes a mutation

A

Errors in DNA replication

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15
Q

What is substitution

A

One vase is swapped for another

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16
Q

What is deletion

A

One base deleted

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17
Q

What is insertion

A

An extra base added

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18
Q

What is duplication

A

One or more based repeated

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19
Q

What is inversion

A

A sequence of bases is reversed

20
Q

How can a protein be altered by a mutation

A

The order of bases in a gene determines the order of aminos acids, changing the primary structure

21
Q

What is the chi-squared equation

A

2 (O-E)2
X = sum of ———-
E

22
Q

What does a genetic pedigree diagram show?

A

An inherited trait in a group of related individuals

23
Q

What does genetic screening involve?

A

Analysing DNA to see if it contains alleles for a genetic disorder

24
Q

What are the 4 uses of genetic screening

A
  1. Identification of carriers
  2. Preimplantation genetic diagnosis
  3. Prenatal testing (Amniocentesis and CVS)
25
Q

Describe identification of carriers

A
  1. Offered to those with family history of genetic disorders
  2. Shows people without disorder if they carry it
  3. Couples tested before having children to make informed decision
26
Q

Name 3 ethical issues for identification of carriers

A
  1. Emotional stress
  2. Tests aren’t 100% accurate so false info
  3. Other genetic abnormalities could be found
27
Q

Describe PGD

A
  1. Carried out on IVF embryos
  2. Screening before Implantation
  3. Reduced chance of baby with genetic disorder , avoids issue of abortion
28
Q

Name 2 ethical issues of PGD

A
  1. Can be used to find out other characteristics (designer baby’s)
  2. False results= incorrect information
29
Q

Describe prenatal testing

A
  1. On unborn babies
  2. Pregnant women with family history
  3. 2 types
30
Q

Describe amniocentesis

A
  1. 15-20 weeks of pregnancy
  2. Sample of amniotic fluid (Contains fetal cells) via fine needle in abdomen
  3. 1% chance of miscarriage
31
Q

Describe chronic villus sampling

A
  1. 11-14 weeks
  2. Earlier so abortion less traumatic
  3. Cells taken from chorionic villi
  4. Fine needle in abdomen
  5. 1-2% chance
32
Q

3 problems with prenatal testing

A
  1. Slight chance of miscarriage
  2. False results = incorrect info
  3. Unethical to abort even with genetic disorder
33
Q

Define tissue

A

Group of similar cells, specially adapted to work together to carry out a function

34
Q

Define organ

A

Group of different tissues that work together to preform a particular function

35
Q

What is an organ system?

A

Organs that work together to preform a function

36
Q

Define gametes

A

Male and female sex cells found in all organisms that reproduce sexually

37
Q

At what point does fertilisation occur

A

Moment when nuclei of gametes fuse

38
Q

Describe the process of fertilisation (6 steps)

A
  1. Sperm swim to egg cell in oviduct
  2. Once 1 sperm makes contact with Zona pellucida the acrosome reaction occurs
  3. Digestive enzymes from acrossome digest Zona so sperm can move through it to egg cell membrane
  4. Sperm head fuses with cell membrane of egg, triggering the cortical reaction
  5. Sperm nucleus enters egg cell, tail discarded
  6. The two nuclei fuse= fertilisation
39
Q

What is the cortical reaction

A

Egg cell releases chemicals from cortical granules into space between cell membrane and Zona pellucida. This makes it thicken and impenetrable to other sperm

40
Q

Describe crossing over

A
  1. Homologous pairs of chromosomes pair up
  2. Two of the chromatids twist around each other
  3. Twisted bit breaks off original chromatid and rejoins onto other chromatid
  4. Chromosomes contain same genes but different combination of alleles
41
Q

What does meiosis produce

A

4 genetically different haploid daughter cells

42
Q

A locus (loci)

A

The position of a gene on the chromosome

43
Q

What does independent assortment do?

A

Means genes with loci on different chromosomes are randomly distributed in the gametes

44
Q

What does ‘linked genes’ mean?

A

Genes on the same chromosome will stay together during independent assortment so alleles will be passed onto offspring together (unless crossing over spilts them up)

45
Q

What will happen to genes that are more closely linked?

A

Crossing over is less likely to spilt them up

46
Q

What are sex-linked characteristics

A

When locus of allele that codes for characteristic is in sex chromosome