Chapter 23 - Characteristics Of Offspring Flashcards

1
Q

What is consanguineous Union?

A

Marriage between cousins (double horizontal lines)

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2
Q

Melanin vs melanocytes.

A

Melanin is a yellow- balky pigment produced by special skin cells called melanocytes creating one of the human traits - skin colour.

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3
Q

Who are albinos?

A

The production of melanin by the melanocytes is dependent on on particular enzymes.

Some Individuals fail to have synthesised one of the enzymes and pigmentation does not occur.

When 2 recessive genes for skin colour pigmentation occurs.

These individuals are called albinos and they white hair, skin, pink eyes (due to reflection of blood vessels)

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4
Q

What is Probability?

A

Probability is the chance that something will happen (expressed as fraction, decimal or percentage).

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5
Q

What are the patterns of inheritance in pedigrees?

A
  1. Every person who shows a dominant Characteristic needs only have one allele for that characteristic, and every person possessing such an allele must show the characteristic.
  2. A person with a dominant characteristic must have at least one parent with the characteristic. It cannot skip a generation
  3. Two people with a dominant characteristic can have a child without that characteristic
  4. Two people who do not posses a dominant characteristic cannot have a child with such a characteristic
  5. Every person who shows a recessive characteristic must have two alleles for that characteristic
  6. A person with a recessive characteristic does not have to have parent with the characteristic. It can skip a generation.
  7. Two people without a recessive characteristic have a child with the characteristic
  8. Two people without a receive characteristic can have a child without the characteristic
  9. A characteristic linked to the X-chromosome cannot be passed from a father to a son. Fathers can only pass such characteristics to their daughters
  10. 2 people without an X-linked characteristic can have a son with the characteristic but not a daughter.
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6
Q

What are single gene disorders?

A

Disorders caused by the inheritance of a single defective gene or disorders that refits from the mutation of the structure of a single gene.

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7
Q

What are some autosomal Dominant inheritance?

A
  1. Huntington’s disease
  2. Achondroplasia
  3. Facioscapulohumeral muscular dystrophy
  4. Neurofimbrosis
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8
Q

What is achondroplasia?

A

A form of dwarfism characterised by short limbs, prominent head, normal intelligence and waddling gait

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9
Q

What it’s facioscapulohumeral muscular dystrophy

A

A rare form of muscular dystrophy affecting the facial muscles.

Other muscles are gradually affected, making it difficult to raise the arms above the shoulders, to lift objects or to walk normally.

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10
Q

What is neurofibromatosis

A

Inherited as a dominant characteristic; affected individuals exhibit numerous tumours along the peripheral nerves.

The tumours are composed of a dense proliferation of nervous and fibrous tissue, and cause abnormalities of the skin and flesh as well as distortions of bone structure.

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11
Q

What are some recessive inheritance disorders?

A
  1. Thalassaemia
  2. PKU
  3. Cystic Fibrosis
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12
Q

Explain what cystic fibrosis

A

Disorder controlled by a recessive allele.

Children with the condition suffer from chest infections, lack of digestive enzymes and increased salt loss.

It is the most common lethal genetic disease in people of European origin, in whom up to 3% of the population are thought to be carriers.

Blood sample is usually taken from the baby’s heel within 2-3 days after birth.

When child is identified as having the disease, it is given special diet low in fat and high in carbohydrates and protein.
The diet is supplemented with pancreatic extract and large dose of vitamin A,D and K.

This does not cure the disease but it does enable the child to function. As normally as possible.

Couples concern that they may be carriers of cystic fibrosis can be tested via a laboratory test done on a sample of blood saliva.
If Results show prospective parents are carriers genetic counselling should be considered before starting a family.

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13
Q

What is Dominant inheritance

A

Dominant inheritance means an abnormal gene from one parent can cause disease.

The abnormal gene dominates.

This disease can also occur as a new condition in a child when neither parent has the abnormal gene.

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14
Q

What is recessive inheritance?

A

Recessive inheritance means both genes in a pair must be abnormal to cause disease.

People with only one defective gene in the pair are called carriers. These people are most often not affected with the condition.

However, they can pass the abnormal gene to their children. CHANCES OF INHERITING A TRAIT

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15
Q

What is Co-dominance inheritance

A

In codominant inheritance , two different versions (alleles) of a gene are expressed, and each version makes a slightly different protein.

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

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16
Q

Example of Co-dominance

A

Sickled cell anaemia vs Sickled cell trait vs normal

17
Q

What is genetic counselling?

A

People concerned about genetic disorders in their family may seek advice of the inherited occurring in their children.

The advice given in these situations is called genetic counselling.

Procedures are available to detect presence of genetic disorders before birth.
- If diagnosed the couple may choose to TERMINATE THE BABY

18
Q

What are profiling techniques?

A

Advances in biotechnology now ensure there is technology in DNA profiling to uniquely identify the genetic make up of individuals.

19
Q

How to do DNA profiling?

A

DNA is distinctive and therefore is used as the ID.

Through the use f specula bacterial enzymes called ‘restriction enzymes’ to cut the DNA at specific base sequences, leaving pieces of various lengths.
* The lengths of these pieces varies distinctively from person for person.

20
Q

What is Gel electrophoresis?

A

It is a technique that separates fragments if DNA according to size.

21
Q

What are the steps to gel electrophoresis?

A
  1. DNA pieces then get PLACED IN WELLS (holes) in a AGAROSE GEL in TRAY that SITS BETWEEN A POSITIVE AND NEGATIVE ELECTRODES.
  2. CURRENT passes through the gel
  3. Since DNA is negative - the DNA molecules are attracted to the positive electrodes and therefore moves towards it.
  4. The smaller pieces move faster than the larger pieces
  5. This creates a bonding pattern called a DNA profile or fingerprint.
  6. The bands on this profile can be compared to relatedness.
22
Q

What is the use of DNA fingerprints?

A
  1. Forensic Science
    - identify the suspect of a crime scene via testing hair samples and blood
  2. Parentage determination
    - determine who the mother/father of the child is by comparing the DNA fingerprints
  3. Tracing ancestry
    - who is the common ancestor
    - who is related to who
  4. Identifying carriers (of a gene ) for a particular genetic inheritance disease
23
Q

How to compare DNA fingerprints

A

Scientists use ‘markers’ when comparing DNA fingerprints.

A marker is a segment if DNA with known characteristics.

They contain short sequences with a known pattern is related a number of times. Because the number of repeats in these sequences is inherited and make useful points of comparison in genetic testing.

Unchanged parts of DNA provide link between generations

  • scientists look for the number of realest at each marker p, and may examine 20-40 markers.

If the different markers are examined on different chromosomes are examined, there is only a one in a million chance that 2 people will have the same number of repeats (except for identical twins)

The more markers that match, the more likely that the 2 individuals are related

  • does not provide entire family tree, only if 2 individuals are related or not
24
Q

What are some social and ethical issues of genetic profiling (ADVANTAGES )

A
  1. Genome can be analysed at birth - stored - then used later
    - identify issues such as Huntington’s disease (onset 40yrs)
  2. Detecting inherited conditions - know for having certain disorders for family - can affect baby
  3. Better knowing - Increase chance of treatment and cure and prepare the person

Eg. Breast cancer - mastectomy

25
Q

What are some social and ethical issues of genetic profiling (DISADVANTAGES )

A

Questions like

  • who does it belong to
  • who handles with the information
  • who has access to information? Who uses p? Who manipulates?
  • how is pro Iva this ensured - what if stored
  • can cause discrimination
26
Q

Outline the evidence in the pedigree chart that suggests this is an X-linked condition. Explain your answer using your knowledge of X-linked inheritance.

A

Only males are affected

Males have an X and Y chromosome

The Y chromosome does not carry matching alleles for all/most of the genes found on the X chromosome

Therefore, males receive only one allele for X-linked characteristics

Meaning it is more likely for them to receive the X-linked recessive condition than females

27
Q

Explain why it would be useful to perform genetic testing for a condition such as Huntington’s disease. (4 marks)

A

Huntington’s is caused by a dominant allele

Meaning it is more likely to have the condition

It also shows no symptoms until much later in life

So if their daughter/if a person knows they have the disease from early in life this can influence their decision to have children of their own later in life

28
Q

Describe the inheritance of the genes that determine the ABO blood group system.

A

People can receive any of 2 alleles from three alternatives/ABO blood groups are determined by multiple alleles

The allele (represented by) IA causes the production of A antigens on the red blood cells

The allele (represented by) IB causes the production of B antigens on the red blood cells

The allele (represented by) I does not cause the production of either the A or B antigen

The IA and IB alleles are codominant, therefore neither allele is dominant to the other

If a person receives both codominant alleles, they have type AB blood

A person can be homozygous dominant for type A or B/can have the genotype IAIA for type A or IBIB for type B

The i allele is recessive to both the IA and IB alleles, therefore it is possible to be heterozygous for type A or type B blood

If a person has 2 recessive alleles/is homozygous recessive for i allele, then they will have type O blood