Biological information (genetics) Flashcards

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1
Q

Who are Watson & Crick + Rosalind Franklin

A

well technically Rosalind franklin, found and photographed the double helix in DNA (meaning that there are two strands

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2
Q

What do chromosomes contain?

A

They contain DNA (genetic material)
- Each chromosome contains one long DNA molecule with hundreds or thousands of genes

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3
Q

What is each chain of DNA made up of?

A

each chain is made up of four kinds of chemical building blocks called nucleotides and abbreviated as A, G, C, and T

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4
Q

What is a ‘medelian’ disease?

A

a genetic disease in humans that is due to a mutation in a single gene

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5
Q

How many pairs of chromosomes do humans have?

A

humans have 23 pairs of chromosomes (46 in total)

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6
Q

What is gene expression?

A

it is the process of converting information gene to cellular product

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7
Q

What is autosomal dominant?

A

on average 50% of the children are affected with the disease and 50% are unaffected

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8
Q

What is autosomal recessive?

A

On average 25% of children are normal, 50% are carriers and 25% are affected with the disease

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9
Q

What does it mean to be an x-linked trait?

A
  • All female from an affected male will be carriers of the disease
  • On average 50% of male children from a female carrier will have the disease and 50% of female children will be carriers
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10
Q

What is an example of an autosomal dominant disease?

A

Huntington’s disease

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11
Q

Example of autosomal recessive diseases:

A
  • cystic fibrosis
  • Sickle cell anemia
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12
Q

Example of x-linked recessive diseases:

A

Hemophilia A

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13
Q

How many single disorders are there?

A

over 7,000

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14
Q

What did Mendel study?

A

He studied, flower color, flower position, seed color, seed texture, pod texture, pod color and plant height

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15
Q

Why was Mendel so successful?

A
  1. he investigated the inheritance of only one or two traits at a time
  2. He kept accurate quantitative data
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16
Q

What is a dominant cross?

A

offspring show ne parents phenotype only

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17
Q

What is a recessive cross?

A

reappearance of the second phenotype

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18
Q

What is the difference between phenotype and genotype?

A

Phenotype - physical appearance
Genotype - genetic makeup

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19
Q

What is the law of segregation?

A

the two alleles for a heritable character segregate (separate from each other) during gamete formation and end up in different gametes

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20
Q

What is Mendel’s second law?

A

This is the law of independent assortment, each trait is inherited independently of the other

21
Q

What is the ratio of combined probabilities ( green x yellow, wrinkled x smooth)

A

The ratio is 9:3:3:1 you multiply after the punnet square

22
Q

What are the degrees of dominance?

A
  1. Complete dominance: occurs when phenotypes of the heterozygote and dominant homozygote are identical
  2. Incomplete dominance: the phenotype of F1 hybrids is somewhere between the phenotypes of the two parental varieties
  3. codominance: two dominant alleles affect the phenotype in separate, distinguishable ways
23
Q

What is pleiotropy?

A
  • multiple phenotype effects
    -Obvious for syndromic diseases where a mutation in one gene can cause defects in multiple tissues.
24
Q

Def mitosis:

A

cell division involving somatic cells

25
Q

Def meiosis:

A

cell division involving gametes (egg and sperm cells)

26
Q

How much of the cell cycle is interphase?

A

About 90% of the cell cycle is in interphase, this is when DNA in the nucleus is replicated (interphase consists of the G1, S, and G2 phase

27
Q

Draw the process of mitosis and meiosis:

A
28
Q

What is a diploid cell?

A

one pair of of homologous chromosomes

29
Q

When a diploid cell replicates what is it known as?

A

two sister chromatids

30
Q

In meiosis 1 what happens?

A

each cell receives only one of the homologues

31
Q

In meiosis 2 what happens?

A

Each cell only receives one sister chromatid (these are haploid cells)

32
Q

What does crossing over do?

A

it shuffles genetic material during the process of gamete formation

33
Q

In a monohybrid cross what is the ratio?

A

3:1 (dominant: recessive)

34
Q

What are the rules about linkage?

A
  1. genes located on different chromosomes are NOT linked (allowing independent assortment)
  2. genes that are located very close together on the same chromosome may show complete linkage, they may also be so close the can’t be separated during during crossing-over
  3. Genes located far apart on the same chromosome typically show incomplete or partial linkage because they are easily separated
35
Q

What is it called when offspring match with one of the parental types?

A

phenotypes that match a parent are called parental types

36
Q

what happens when two genes are far apart?

A
  1. higher probability that a cross-over will occur between them
  2. the higher the recombination frequency
    - This is because the greater the distance between two genes the more points there are between them, where crossing over can occur
37
Q

What was Griffith’s experiment?

A

to inject mice with the different strain types and observe the effect on mice and analyze their blood for bacteria

38
Q

What is horizontal gene transfer?

A

the movement of genetic material between unicellular and or multicellular organisms

39
Q

What are the steps of horizontal gene transfer?

A

Transformation: involves uptake of short fragments of naked DNA by naturally transformable bacteria
Transduction: involves the transfer transfer of DNA from one bacterium into another via bacteriophage
Conjugation: involves transfer of DNA via sexual pilus and requires cell-to-cell contact

40
Q

What did the Hershey-Chase experiment prove?

A

Protein was not genetic material but DNA was

41
Q

What does a chromosome consist of?

A

DNA molecule and tightly packed proteins

42
Q

What does it mean when chromatin is packed tightly?

A

This means that it is harder for genes to express their genetic information, which means that if they are loose it is easier to express genetic information

43
Q

What are epigenetics?

A

heritable changes in gene expression (active vs. inactive genes) that are not due to changes to the DNA sequence

44
Q

What are steps to DNA replication?

A

There is one continuous strand which is the “conservative strand” and the other is put in in chunks RNA primer (5’ to 3’) and these are called okazaki fragments

45
Q

DNA replication and there proteins:

A

Helicase: unwind the strand
Single stranded binding protein: binds to and stabilizes single-stranded DNA until it is used as a template
Topoisomerase: relieves unwinding strain, rejoins DNA strand
primase: Synthesizes at 5’ end of leading strand okazaki fragment

46
Q

What is messenger RNA?

A

also known as mRNA
- transcribed from ‘protein-coding’ genes
encode the information for specific proteins.
- low abundance

47
Q

Ribosomal RNA:

A

rRNA
- structural and functional component of ribosomes
- the most abundant RNA in a cell
-rRNA is very stable
-rRNA os a non-coding RNA

48
Q
A