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Genetics and Genomics in Nursing > Lecture 5 > Flashcards

Lecture 5 Flashcards

1
Q

What does Metacentric mean?

A

Centromeres is directly in the middle

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2
Q

What does submetacentric mean?

A

Centromere not in the middle forming a long arm (q) and short arm(p)

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3
Q

What is Acrocentric?

A

Centromere is close to the end of the chromosome. With a long arm and a knob.

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4
Q

What is Telocentric?

A

Centromere is very close to the end of the chromosome.

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5
Q

Karyotype is

A

A ordered array of the condensed chromosomes from a cell

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6
Q

Homologous pair is

A

two versions of a chromosome

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7
Q

Homologous pairs has what the same and what different?

A

The same set of genes in the same order
Different versions (alleles) of a given gene

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8
Q

Three main types of chromosome-level mutations

A

Chromosome rearrangement
Aneuploidy
Polyploidy

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9
Q

What does chromosome rearrangements alter? examples?

A

Alters the structure of a chromosome
Ex: duplications, deletions, inversion, translocation

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10
Q

What is Aneuploidy?

A

Addition or loss of the number of chromosomes

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11
Q

Polyploidy is?

A

The number of complete sets of chromosomes

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12
Q

Polyploid is?

A

more then two complete sets of chromosomes

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13
Q

Euploid is?

A

Complete set of chromosomes

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14
Q

Aneuploidy is caused by what?

A

nondisjunction

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15
Q

What is nondisjunction?

A

Homologous pairs of chromosomes fail to separate during meiosis or sister chromatids fail to separate during mitosis or meiosis

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16
Q

4 types of aneuploidy

A

Nullisomy: loss of both members of the pair of Homo. chromosomes
Monosomy: loss of a single chromosome
Trisomy: gain of a single chromosome
Tetrasomy: gain of pair of homologous chromosomes

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17
Q

Chromosome mutations in BLANK of spontaneously aborted fetuses, mostly aneuploidies

A

less then 50%

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18
Q

What is trisomy 21?

A

Down Syndrome
Most common trisomy

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19
Q

What is the birth rate for down syndrome?

A

1 in 800 births

20
Q

What are the associated features for down syndrome?

A

Decreased intellectual development
Congenital heart defects
flat face with widely spaced eyes, low-set ears, and a small nose
premature aging
Increase

21
Q

What is trisomy 18?

A

Edward syndrome
second most common

22
Q

How many births of Trisomy 18?

A

1 in 3,000
usually stillborn

23
Q

What are the associated features for trisomy 18?

A

Severely reduced intellectual development
Small, strawberry-shaped head with receding chin
Rocker-bottom feet
Heart and kidney malformations

24
Q

When sex chromosomes do not segregate properly in meiosis, what happens?

A

Abnormal numbers of sex chromosomes can arise

25
Q

What determines the male sex?

A

the SRY gene on the Y chromosome

26
Q

If thought you have 1 Y with alot of Xs what will happen

A

still be a male

27
Q

X chromosomes are required for what?

A

Viability

28
Q

What is Monosomy X?

A

Karyotype 45 chromosomes
Most common chromosomal abnormality. Low life expectancy

29
Q

What is Trisomy X?

A

Karyotype 47 chromosomes all X
Normal female phenotype, tall fertility unaffacted

30
Q

What is poly-x?

A

Karyotype 48 or 49
Rare

31
Q

What is chromosomal translocation?

A

Segment of the chromosome moved to another chromosome

32
Q

Balanced translocation

A

all genetic material is present in the correct amount, though position is altered

33
Q

Nonreciprocal translocation

A

Segment of one chromosome moved to another chromosome

34
Q

Reciprocal translocation

A

Segments swapped between two different chromosomes

35
Q

Impacts of chromosomal translocation

A

connect a coding region to a different promotor or regulatory element
Join two coding regions
interrupt a coding region

36
Q

What is the Philadelphia chromosome?

A

Specific reciprocal translocation between chromosome 9 and 22

37
Q

What is the Robertsonian translocation? VERY IMPORTANT

A

short arm of one acrocentric chromosome is swapped with the long arm of another acrocentric chromosome, creating a large metacentric chromosome and a mini- chromosome fragment which is too small to segregate correctly in mitosis or meiosis and is lost.

38
Q

2 impacts of chromosomal translocation within humans

A

Individuals with balanced chromosomal translocation usually have no phenotype

Problems may arise during reproduction, an individual who is a carrier for the Robertsonian translocation can have the following progeny/offspring:
Chromosomally normal Trisomy
Monosomy
translocation carrier

39
Q

What are the impacts of chromosomal translocation during meiosis?

A

Synapsis during prophase I: cross shaped structure

Separation of homologs during metaphase I and anaphase I

40
Q

Primary down syndrome is what percent of random nondisjunction in egg formation?

A

75%

41
Q

Familial Down Syndrome is what?

A

Robertsonian translocation between chromosomes 14 and 21

42
Q

Translocation carrier is compose of what gametes? and Live birth or aborted?

A

14-21, 14,21

Live birth

43
Q

normal zygote is compose of what gametes? and Live birth or aborted?

A

21,14, 21, 14

Live birth

44
Q

Down syndrome is compose of what gametes? and Live birth or aborted?

A

14-21, 21, 21,14

Live birth `

45
Q

Monosomy 21 is compose of what gametes? and Live birth or aborted?

A

14, 21,14

Aborted

46
Q

Trisomy 14 is compose of what gametes? and Live birth or aborted?

A

14-21,14,21,14

Aborted

47
Q

Monosomy 14 is compose of what gametes? and Live birth or aborted?

A

21,14,21

Aborted

Genetics and Genomics in Nursing (10 decks)

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