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Lecture 7-9
Cytogenetics
46
Veterinary Medicine
Not Applicable
02/25/2017

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Cards

Term
cytogenetics studies what?
Definition
chromosomes
Term
What is a copy number variation?
Definition
genomic variation that ranges from kb to mb in size
Term
the p arm is the (long/short) arm
Definition
short
Term
How would you describe a chromosome with a centrally located centromere?
Definition
metacentric
Term
How would you describe a chromosome with a very distally located centromere?
Definition
acrocentric
Term
Gametes are (haploid/diploid)
Definition
haploid
Term
Somatic cells are (haploid/diploid)
Definition
diploid
Term
Define karyotype
Definition
organized arrangement of chromosomes according to a standard nomenclature and format
Term
How do you make a karyotype?
Definition
-arrange chromosomes into pairs or morphological groups
-decreasing size
-number from largest to smallest (1 -> ?)
-X & Y arranged separately
Term
How many chromosomes do dogs have?
Definition
76
Term
How many chromosomes do horses have?
Definition
64
Term
How many chromosomes do cattle have?
Definition
60
Term
How many chromosomes do pigs have?
Definition
38
Term
How many chromosomes do cats have?
Definition
38
Term
How many chromosomes do chickens have?
Definition
78
Term
Sex chromosomes for birds & reptiles?
Definition
ZW (female)
ZZ (male)
Term
True or False

In sperm, there will be a 50/50 ratio of male vs female chromosomes
Definition
true
Term
What is secondary sex ratio?
Definition
the percentage of males vs females at birth
Term
What factors might affect sex ratio?
Definition
climate, litter size, reproductive technique, parity, stress, nutrition etc
Term
What is tertiary sex ratio?
Definition
the percentage of males vs females at maturity
Term
How does thyroid hormone influence sex ratio?
Definition
more female embryos produced when exposed to TH
Term
How does temperature influence sex ratio?
Definition
in reptiles (turtles especially), if eggs are exposed to higher temperatures you will get more females, lower temperatures = more males
Term
What is 'MSY'?
Definition
the male specific region of a sex chromosome, which cannot pair or undergo crossing over with an X chromosome. makes up 95% of Y
Term
Which sex chromosome is 'gene rich', X or Y?
Definition
X
Term
Haemophilia A is associated with factor __ while haemophilia B is associated with factor ___
Definition
VIII

IX
Term
What does telomerase do?
Definition
enzyme which maintains telomere length and becomes inactivated after birth
Term
What might telomere length tell us about someone's health?
Definition
short telomeres associated with shorter longevity

-chronic stress shortens telomere length
-so does smoking
Term
A trio of chromosomes is called a...
Definition
trisomy
Term
If both pairs of chromosomes are missing it is called a...
Definition
nullisomy
Term
If one chromosome is missing it is called a...
Definition
monosomy
Term
Abnormal number of chromosomes
Definition
aneuploidy
Term
What is Turner syndrome?
Definition
female missing an X chromosome
Term
The chromosomes that aren't sex chromosomes are called...
Definition
autosomal
Term
What is a terminal deletion?
Definition
the end of a chromosome is missing
Term
When an 'inside' piece of a chromosome is missing this is called..
Definition
intercalary deletion
Term
What is a shift duplication?
Definition
part of a chromosome is duplicated but the 'copy' is not adjacent to the original piece
Term
What is a robertsonian translocation?
Definition
Occurs between two chromosomes, usually with acrocentric centromeres

-chromsomes break at centromeres
-the two long arms fuse to form one long chromosome
-short arms (p) often fuse as well but get lost
Term
Interpret this bovine karyotype: 59rob(1:29)XY
Definition
XY = bull
rob(1:29) = robertsonian translocation between chromosome 1 & 29
Term
What is a meotic trivalent?
Definition
when 3 chromosomes form a single structure during meiosis
Term
True or False

Meiotic trivalency is lethal
Definition
False

only if the trivalency is not balanced (need equal number of p & q arms)
Term
Will an individual with robertsonian translocations pass this on to their offspring?
Definition
50% will carry the translocation, 50% will be normal
Term
Reciprocal translocations are most common in...
Definition
pigs
Term
An individual with two chromosome complements from one zygote
Definition
mosaic
Term
An individual with two chromosome complements from multiple zygotes
Definition
chimera
Term
What might cause mosaicism?
Definition
non-dysjunction in meiosis
anaphase lag
Term
What karyotype does a female pseudohermaphrodite have?
Definition
XX
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