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Molecules to Cells - Genetics and Virology > Lecture 30. Mapping Mendelian Traits > Flashcards

Lecture 30. Mapping Mendelian Traits Flashcards

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1
Q

Talk about dominant inheritance.

A

The affected individual usually has at least one affected parent. The disease can be transmitted by either parent. Usually 50% of siblings have the disease

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2
Q

Talk about recessive inheritance ?

A

Affected people are usually born to unaffected parents who are both carriers. Children from these matings have a 25% chance of being affected

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3
Q

Talk about x-linked inheritance.

A

Usually males are affected. The mother is an unaffected carrier. 50% of male children are affected and there is no male to male transmission.

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4
Q

How many versions of each autosome do we have ?

A

2

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5
Q

What is female deactivation ?

A

Rendering transcriptionally silent one of the x-chromosomes by highly condensing it

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6
Q

What is the law of segregation ?

A

Alternative forms of the same genes at the same position/locus on homologous chromosomes

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7
Q

What is mitosis ?

A

Somatic cell division

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8
Q

By what stage have all 46 chromosomes replicated ?

A

Late prophase

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9
Q

What are replicated chromosomes held together by ?

A

The centromere

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10
Q

What has occurred by metaphase ?

A

The nuclear membrane has disappeared and all 46 chromatids are drawn to opposite poles of the cell, and two daughter cells are generated

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11
Q

What does the formation of germ cells require ?

A

Reductive division or meiosis

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12
Q

How are chromosomes prepared ?

A
  1. A small blood sample is removed.
  2. White cells are recovered and place in a culture
  3. An agent is added which arrests cell replication
  4. The cells are lysed and chromosomes are stained
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13
Q

What is the agent that is often added to prepare chromosomes ?

A

Colchicine

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14
Q

What are metacentric chromosomes ?

A

Centromere divides chromosome into equal halves

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15
Q

What are sub-metacentric ?

A

P arm is shorter than q arm

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16
Q

What is acrocentric chromosomes ?

A

No short arm

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17
Q

What does SRY stand for ?

A

Sex determining gene

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18
Q

What does the SRY encode ?

A

A transcription factor which controls the expression of testis determining genes

19
Q

What does chronic myeloid leukaemia display on an ideogram ?

A

A chromosomal translocation - small pieces of chromosome 9 and 22 exchange places

20
Q

What is the chromosomal translocation in chronic myeloid leukaemia called ?

A

The Philadelphia translocation

21
Q

What is a treatment option for a chronic myeloid leukaemia which is not caused by translocation ?

A

Gleevac

22
Q

What is a method of chromosome analysis ?

A

Multi-colour special karyotyping (SKY)

23
Q

What tissue has the highest oxygen consumption per unit gram in the human body ?

A

Retina

24
Q

What are cones required for in eyes ?

A

Day time vision

25
Q

Where are cones found ?

A

Foveal pit

26
Q

What are rods required for ?

A

Night time vision

27
Q

What are some clinical manifestations of renitis pigmentosa ?

A
  1. Night blindness
  2. Loss of rod photoreceptors
  3. Tunnel vision
  4. Eventual complete vision loss
28
Q

Where is the mutation that forms the disease retinitis pigmentosa ?

A

Chromosome 3

29
Q

What does the mutated gene for retinitis pigmentosa encode ?

A

Rhodopsin

30
Q

What is rhodopsin ?

A

A light sensitive pigment of rod photoreceptor cells

31
Q

What is the mutation of rhodopsin for retinitis pigmentosa ?

A

A single point mutation within one allele of the gene, proline is changed to histidine at position 23 of the polypeptide.

32
Q

What is the coefficient of relationship ?

A

The proportion of alleles shared by 2 people as a result of a common genetic descent

33
Q

What is leber congenital amaurosis ?

A

The most prevalent form of congenial blindness. Photoreceptors are non-functional but remain alive within the retina

34
Q

Signs and symptoms of Alzheimer’s ?

A
  1. Memory loss for recent events - progresses into dementia
  2. Inability to converse, loss of language ability
  3. Affective/personality disturbance - hostile
  4. Death from opportunistic infections
35
Q

How can you confirm Alzheimer’s disease ?

A
  1. Neuronal (amyloid, beta amyloid, Abeta amyloid) plaques
  2. Neurofibrillary tangles
  3. Bain atrophy
36
Q

How can you classify Alzheimer’s disease ?

A
  1. Familial verses sporadic

2. Early verses late onset

37
Q

Which locus segregates with familial alzheimer’s disease ?

A

Chromosome 21

38
Q

What is the linkage analysis test statistic ?

A

The LOD score

39
Q

What is the LOD score ?

A

Based on the log of the ration of the probability of a segregation occurring under the assumption of linkage and the probability of it occurring under the assumption of independent segregation

40
Q

What is linkage ?

A

The relationship between two or more loci

41
Q

What is association ?

A

The relationship between the alleles of two or more loci

42
Q

What is association mapping ?

A

The coincidence of trait and marker allele in populations

43
Q

Why is association mapping a good technique for candidate gene testing ?

A

Resolution is high but coverage is low

Molecules to Cells - Genetics and Virology (16 decks)

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