U2L9 Flashcards

1
Q

Mendelian inheritance has its physical basis in the

A

Behaviour of chromosomes

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2
Q

What exhibit unique patterns of inheritance?

A

Sex linked genes

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3
Q

Why are linked genes inherited together?

A

Because they are located near each other on the same chromosome

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4
Q

What causes genetic disorders?

A

Alterations of chromosome number or structure

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5
Q

What does the chromosome theory of inheritance state?

A
  • Mendelian genes have specific loci (positions) on chromosomes
  • chromosomes undergo segregation and independent assortment
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6
Q

What discovery of Morgan’s helped develop the chromosome theory of inheritance

A

His discovery of a trait that correlated with the sex of flies

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7
Q

What two varieties of sex chromosomes are found in humans?

A

A larger X chromosome and a smaller Y chromosome

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8
Q

What do the ends of Y chromosomes have?

A

Regions homologous with corresponding regions of X chromosome that allows the two to behave as homologues during meiosis in males

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9
Q

What does the SRY gene do?

A

On Y chromosome and codes for a protein that directs development of male anatomical features

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10
Q

True or false: the X chromosome has genes for many characters unrelated to sex

A

True

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11
Q

True or false: The Y chromosome mainly encodes genes related to sex determination

A

True

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12
Q

For a recessive X linked trait to be expressed:

A
  • Females need two copies of the allele (homozygous)
  • Males need only one copy of the allele (hemizygous)
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13
Q

Examples of some disorders caused by recessive alleles on the X chromosome?

A

Colour blindness
Duchenne muscular dystrophy
Hemophilia

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14
Q

Sex chromosomes in chickens?

A

ZW: female
ZZ: males

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15
Q

What is X inactivation in female mammals?

A

One of the two X Chromosomes in each cell is randomly inactivated during embryonic development

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16
Q

What does an inactive X condense into?

A

A Barr body

17
Q

If a female is heterozygous for a particular gene located on the X chromosome, she will be…

A

A mosaic for that character

18
Q

Define parental types

A

Offspring with a phenotype matching one of the parental phenotypes

19
Q

Define recombinant types

A

Offspring with non parental phenotypes (new combinations of traits)

20
Q

What is the frequency of recombination observed for any two genes on different chromosomes?

A

50%

21
Q

Why did morgan propose the idea of crossing over of homologous chromosomes?

A

Discovered that gene linkage was incomplete due to observing recombinant phenotypes and proposed that some process must be breaking the physical connection between genes on the same chromosome

22
Q

What can lead to miscarriages?

A

Large scale chromosomal alterations such as changes in number or structure

23
Q

Define meiotic nondisjunction

A

Pairs of homologous chromosomes do not separate normally during meiosis, as a result one gamete receives two copies of a chromosome and the other receives 0

24
Q

Aneuploidy

A

results from fertilization of gametes in which nondisjunction occurred - offsprings have an abnormal number of a chromosome

25
Q

Monosomic zygote

A

has only one copy of a particular chromosome

26
Q

Trisomic zygote

A

has three copies of a particular chromosome

27
Q

Polyploidy

A

Condition in which an organism has more than two complete sets of chromosomes
Triploidy (3n) = three sets
Tetraploidy (4n) = four sets

28
Q

What are the 4 types of changes in chromosome structure

A

Deletion, duplication, Inversion, translocation

29
Q

What is deletion?

A

A deletion removes a chromosomal segment

30
Q

What is inversion?

A

Inversion reverses a segment within a chromosome
BCD -> DCB

31
Q

What is duplication?

A

A duplication repeats a segment
ABCD -> ABCBCD

32
Q

What is translocation?

A

A translocation moves a segment from one chromosome to a non-homologous
ABCD and MNOP -> MNOC and ABP

33
Q

Klinefelter syndrome

A

Extra X chromosome in males: XXY

34
Q

Turner syndrome

A

Monosomy X produces X0 females who are sterile - only known viable human monosomy

35
Q

Porphyria

A

Irregularities in production of heme which leads to toxins in skin - activated by light. This causes irritation/burning and people have an intolerance to foods with high sulphuric content (garlic) Vampires

36
Q

Hypertrichosis

A

Rare genetic condition that leads to excessive hair growth - werewolves

36
Q

TB

A

Lung disease caused by Mycobacterium tuberculosis where victims turn pale and avoid sunlight, spreads easily - Vampires