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BIO 226 > Module 2 > Flashcards

Module 2 Flashcards

1
Q

What biological process explains Mendel’s law?

A

Meiosis

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2
Q

What are the products of segregation after meiosis?

A

4 chromatids

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3
Q

What is segregation?

A

A mechanism to generate variability

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4
Q

How many possible random segregation combinations are there for humans?

A

2^23 = 8,388,608

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5
Q

What is the unit of segregation?

A

Chromosomes

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6
Q

What is the determinant factor for male reproductive development?

A

SRY gene

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7
Q

What are female chromosomes?

A

XX

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8
Q

What are male chromosomes?

A

XY

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9
Q

What would cause femaleness in XY individuals?

A

Deletion of the SRY gene

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10
Q

What is an example of X-linked recessive?

A

Colour blindness and hemophilia

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11
Q

What is an example of X-linked dominant?

A

Vitamin D resistant, brown teeth enamel

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12
Q

What do gene mutations affect?

A

Typically one gene

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13
Q

What is a large-scale chromosome change?

A

Chromosome mutation that affects many genes, leads to structural differences that can be detected using microscope

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14
Q

What is a karotype?

A

A collection all chromosomes (with a specific number and structure) of a species or individual in condensed state

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15
Q

What are cytogenetics?

A

Geneticists use stains to identify specific chromosomes and to analyze structures

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16
Q

What is a euploid?

A

Having a chromosome number that is an exact multiple of a monoploid number (1n)

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17
Q

What is a polyploid?

A

Extra copies of each chromosome of species (>2n, diploid, triploid, tetraploid)

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18
Q

What is an aneuploid?

A

Abnormal number of one or more chromosomes

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19
Q

What is the definition of monosomic?

A

One missing chromosome compared to 2n wild type

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20
Q

What are the effects of polyploids?

A

Part of normal development of certain tissues and organisms (human muscle tissue, bone marrow

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21
Q

What are the results of monoploids?

A

Part of normal development in some insects (wasps, bees), males are 1n, females are 2n

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22
Q

What are the results of monosomic?

A

Part of normal development in some organisms, sex determination in some nematodes (XX and XO)

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23
Q

What is autopolyploid?

A

All chromosomes originated from the same organisms

24
Q

What is allopolyploid?

A

One set of chromosomes originated from one organism and other from another, parent organisms need to be related to produce viable progeny

25
Q

Allopolyploidy in agricultural purposes

A

Mixing 2 genomes can lead to new phenotypes in offspring

26
Q

Autopolyploidy in agricultural purposes

A

Increasing ploidy levels can generate traits more valued by consumer

27
Q

How are autopolyploids generated naturally?

A

Naturally formed by mistakes in meiosis that lead to failure in executing one of the meiotic divisions and leads to gamete with twice as many chromosomes

28
Q

How are autopolyploids induced/created?

A

Formed by hybridization; crosses between 2 related species (mostly plants), can be formed by chemically fusing 2 cells

29
Q

What is the purpose of polyploid tissues in humans?

A

In some tissues, cells replicate DNA in S phase but not divide, leading to formation of polyploid tissue. eg) liver, heart, bone marrow, any smooth muscle

30
Q

What is aneuploidy?

A

The addition or loss of less than a full set of chromosomes or chromosome pairs

31
Q

What is monosomes?

A

One missing chromosome, in humans, autosomic monosomies die in utero; only one viable monosomy (Turner syndrome)

32
Q

What are trisomies?

A

one extra chromosome, in humans, only autosomic monosomies for large chromosomes die in utero, few viable trisomies (Klinefelter syndrome, down syndrome)

33
Q

Turner syndrome chromosomes

A

XO

34
Q

Turner syndrome characteristics

A

sterile females
tall, slightly feminized
poor facial hair growth
small testis, female type pubic hair

35
Q

Down Syndrome is also known as

A

Trisomy 21

36
Q

Down syndrome effects which chromosome?

A

21 non-disjunction/translocation

37
Q

What is the idea of gene dosage?

A

Products of genes typically do not work in their own pathway, but interact with others to contribute to process or pathway

38
Q

What are some origins of chromosomal rearrangements?

A

Deletions, duplications, inversion, translocation

39
Q

What is needed for rearrangement of chromosomes to happen?

A

Should maintain most basic structure - have one centromere and two telomeres

40
Q

What happens after mitosis of normal chromosomes?

A

Normal splitting

41
Q

What happens after mitosis of dicentric chromosomes?

A

Break in chromosome loss, less viable

42
Q

What happens after mitosis of ascentric chromosomes?

A

no pulling forces, missegregation or chromosome loss

43
Q

What are unbalanced rearrangments?

A

Leads to change the gene number, can be caused by deletions and duplications, when they involve at least one gene

44
Q

What are balanced rearrangements?

A

Does not lead to changed gene number, will be arrangements that change gene order, like inversions and reciprocal translocations

45
Q

What is pseudodominance?

A

Recessive alleles uncovered by deletion will appear as if they are dominant, can lead to defects if deletion involves haploinsufficient genes

46
Q

What are the most common chromosomal rearrangements in humans?

A

Translocation

47
Q

Translocations can cause

A

New phenotypes

48
Q

What are proto-oncogene?

A

When mutated acquires novel activity to promote cancer

49
Q

What is Chromothripsis?

A

Genome chaos, generated clustered chromosome rearrangements are characteristic for tumor cells

50
Q

What is non-disjunction?

A

The failure of homologs (at meiosis) or sister chromatids (at mitosis) to separate properly at opposite poles

51
Q

What is a frameshift mutation?

A

The insertion or deletion of a nucleotide pair or pairs, causing a disruption of the translational reading frame

52
Q

What is translocation?

A

The relocation of a chromosomal segment to a different position in the genome

53
Q

What is an inversion?

A

A chromosomal mutation consisting of the removal of a chromosome segment, its rotation through 180°, and its reinsertion in the same location

54
Q

What is a dicentric chromosome?

A

A chromosome with two centromeres

55
Q

What is euploidy?

A

A complete chromosome set or an exact multiple of the haploid chromosome set

56
Q

What is polyploidy?

A

A chromosomal complement with at least three complete sets of homologous chromosomes

BIO 226 (4 decks)

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