W14 Inheritance Flashcards

1
Q

Define genetics and describe the mechanism of gene function.

A

DNA/ deoxyribonucleic acid is hereditary material. 2 strand polymore that stores info using a code.
adenine (A), cytosine (C), guanin (G) and thymine (T).
Acts as a template, making copies or to be decoded.

A gene also contains regulatory info hat dictates when and where a particular protein should be produced,

Protein synthesis:

  • which proteins
  • when to make them
  • how much- where within the body
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2
Q

Describe the human genome

A

The sequence of the entire human genome is 3 billion bases long. Helps in identification of disease causing genes

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3
Q

Discuss the distribution of chromosomes to offspring; specifically, meiosis and the principle of independent assortment.

A

Meiosis: production of eggs and sperm, where only one of the pair of chromosomes is packaged into each sperm (haploid -1n). During fertilisation a full set of 23 pairs is reconstituted .

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4
Q

Differentiate between the following sets of terms: dominant/recessive, genotype/phenotype, homozygous/heterozygous.

A

Dominant: an allele that masks or suppresses the expression of another allele. (larger T dominant)
Recessive: An allele whose expression is masked or suppressed by a dominant allele. (little t recessive)

Homozygous: Inheritance for two identical alleles for the one trait.
Heterozygous: Inheritance of two different alleles for the one trait

Genotype: describes the genetic makeup. (describing alleles)
Phenotype: the way ones genotype is expressed (describing characteristics)

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5
Q

Explain how certain traits demonstrate the dominant-recessive mode of inheritance.

A

Each inherited trait is controlled by two sets of similar genes, one from each parent. In a punnet square.

Dominant: means that a single copy of the disease-associated mutation is enough to cause the disease.

Recessive: where two copies of the mutation are needed to cause the disease

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6
Q

Explain how certain traits demonstrate multiple-allele inheritance.

A

Genes that exhibit more than two alternate alleles, ABO blood grouping is an example

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7
Q

Explain the terms polygenic, incomplete dominance and codominance and give examples.

A

Both elleles influence the genetic trait or determine the characteristics of the genetic condition

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8
Q

Explain how certain traits demonstrate sex-linked inheritance.

A

X genes are found on only the X chromosome. Only passed on to sons by their mothers. (Y chromosome must come from father).

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9
Q

What is extrachromosomal (mitochondrial) inheritance?

A

,

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10
Q

Briefly describe the basis for genetic diseases and give one example of a chromosomal disease.

A

Karyotype is a desciprtion of a persons chromosomes, Determining the sex chromosomes. OTher 22 pairs of chromosomes are called autosomal chromosomes, abnormalities can be detected.

Down syndrome is an example.

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11
Q

How are genetic traits identified? Define and describe a pedigree, the Punnett square, and the karyotype.

A

,

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12
Q

Predict the probability of inheriting certain genotypes & phenotypes using punnet squares.

A

,

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13
Q

Discuss the distribution of chromosomes to offspring

A

Mitosis, this is where normal body cells divides, it is at this time that we can see the full complement of chromosomes.

23 pairs of chromosomes, mum and dad.

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14
Q

What is Transcription?

A

Transcibed into an RNA molecule by the nucleus by RNA polymerase.

Transciption: strand of DNA template to build a molecule

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15
Q

What is translation?

A

Translation: RNA molecule created in transcription process delivers info from DNA protein building machines

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16
Q

Describe protein synthesis

A

Proteins are important structural components of cells and extracellular material. All enzymes are proteins, therefore metabolism is required.
Chromosomes → to genes each copy is referred to as an allele, performing the same function and in other cases performing different functions (eg skin colour, hair colour)

17
Q

Can you ellaborate phenotype TT Tt tt qualities with an example?

A

The phenotype red hair is determined by a single pair of recessive alleles.

Whereas the phenotype freckles is an example of a strict dominance and requires only one allele for the trait to be expressed

18
Q

Discuss the principle of independent assortment

A
  1. Segregation: refers to the separation of the paired alleles (mitosis), resulting in number of possible chromosomes.
  2. Independent assortment → segregation, random assortment of chromosomes from X + Y (mum and dad)
  3. Random fertilisation: a single oocyte is fertilized by a single sperm in in a random manner
  4. Recombination: homologous chromosomes can exchange info during meiosis
  5. Environmental impact on gene expression: poor nutrition, influences genetic expression
  6. Genomic imprinting: Same allele canhave different effects depending upon the source of parent
19
Q

Explain the term incomplete dominance

A

The dominant allele only partially masks the recessive allele. For example aberrant haemoglobin is the result of a partially recessive allele