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BIOL 239 > Week 3 > Flashcards

Week 3 Flashcards

Pedigrees

1
Q

when is pedigree analysis used

A

when breeding experiments are not possible

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2
Q

what does it mean for a trait to be multifactorial

A

influenced by more than one gene

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3
Q

what is a feature of most single-gene traits in human

A

relatively rare, involve abnormalities that are either disabling or life-threatening

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4
Q

what are example of monomorphic genes with mutant phenotype showing pleiotropy

A
  • sickle-cell disease
  • Tay-Sachs disease
  • Phenylketonuria (PKU)
  • Albinism
  • Huntington’s disease
  • Cystic Fibrosis
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5
Q

what are the features of sickle-cell disease

A
  • abnormal hemoglobin
  • sickle-shaped red cells
  • anemia
  • blocked circulation
  • increased resistance to malaria
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6
Q

what causes sickle-cell disease

A

single nucleotide substitution results in incorrect amino acid, results in a change in conformation of the β-globin when deoxygenated

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7
Q

what are the features of Tay-Sachs disease

A
  • build-up of fatty deposit in brain
  • build-up destroys nervous development
  • blindness
  • paralysis
  • mental retardation
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8
Q

what causes Tay-Sachs disease

A

a missing enzyme

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9
Q

what are the features of Phenylketonuria (PKU)

A
  • phenylalanine builds up
  • body converts it to phenylpyruvic acid which interferes with early development of the nervous system
  • mental deficiency in untreated young
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10
Q

what causes Phenylketonuria (PKU)

A

mutation in enzyme in metabolic pathway

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11
Q

can dominance be condition-dependent

A

yes

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12
Q

study pleiotropy in sickle-cell disease

A

slide 30 in 1g slides

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13
Q

what are some of the negative effects of albinism

A
  • unpigmented skin, hair, and eyes
  • effects all pigment deposition in humans
  • increases the eye’s sensitivity to light and incidence of skin cancers
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14
Q

what causes albinism

A

missing enzyme in pathway to melanin production

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15
Q

describe albinism in the corn snake (similar in other animals)

A

different snakes can be albino for different pigments, albino for red pigment, albino for melanin pigment, or albino for both

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16
Q

what are the features of Huntington’s disease

A
  • progressive mental and neurological damage
  • neurologic disorders by ages 40-70
  • dominant trait with variable expression
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17
Q

what causes Huntington’s disease

A

extra nucleotide repeats in the gene, gene function is unknown

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18
Q

what are the features of cystic fibrosis

A
  • accumulation of thick mucus in the lungs and digestive organs
  • difficulty breathing
  • pneumonia
  • digestive malfunctions
  • recessive gene
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19
Q

what causes cystic fibrosis

A

mutations in a protein responsible for chloride ion regulation

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20
Q

what does a diamond represent in a pedigree

A

sex unspecified

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21
Q

what does a circle represent in a pedigree

A

female

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22
Q

what does a square represent in a pedigree

A

male

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23
Q

what does a coloured symbol represent in a pedigree

A

individuals with the trait

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24
Q

what does a slash represent in a pedigree

A

the individual is deceased

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25
what does a number in a symbol represent in a pedigree
number of children of indicated sex
26
how are generations represented in a pedigree
with roman numerals
27
how are individuals within a generation represented in a pedigree
decimal numbers
28
what are signs of a dominant trait in a pedigree
the trait appears frequently in each generation
29
what are signs of a recessive trait in a pedigree
appears sporadically
30
what are the effects of a myostatin deficiency
hyper muscular individuals
31
what is the purpose of myostatin
inhibits muscle growth
32
define: autosomal trait
conferred by a gene residing on a chromosome not involved in sex determination
33
how many pairs of autosomes do humans have
22
34
define: sex-linked trait
conferred by a gene residing on the X or Y chromosome
35
how many pairs of sex chromosomes do humans have
1
36
how do you approach determining if a trait is sex-linked with a pedigree
try assigning the trait to be X or Y linked and see if any contradictions occur
37
what happened in the 1880s
Mendel introduced the concept of alleles as something in cell that carried inheritable traits, he knew nothing about chromosomes
38
what happened in 1667
studies showed semen contains spermatozoa
39
what happened in 1854
studies with frogs and sea urchins showed union of male and female gametes in equal contribution
40
what happened in 1879
observation of threadlike structures in the nuclei of salamander cells during cell division
41
what happened in 1880
advances in microscopic techniques and the use of dyes for differential staining of cytoplasm, nucleus and nuclear structures, including chromosomes
42
what happens in the 1900s
linked chromosomes to the Mendelian principles of segregation and independent assortment proposed that each egg or sperm contains only one of each chromosome of a pair
43
what are the two parts of the chromosomal theory of inheritance
1. hereditary information is on genes and that genes are located on chromosomes 2. egg and sperm contribute equally to the genetic endowment of offspring through their nuclei
44
what happened in 1901
the X and Y chromosomes determine sex in grasshoppers
45
what is the XO sex in humans
Turner female
46
what is the XO sex in drosophila
male
47
what is the OY sex in humans and drosophila
the individual dies
48
what is the XXX sex in drosophila
the individual dies
49
what is the XXX sex in humans
female
50
what is the XXY sex in drosophila
female
51
what is the XXY sex in humans
Kleinfelter male
52
what is the XYY sex in drosophila
male
53
what is the XYY sex in humans
male
54
how is sex determined in humans
the presence of Y chromosome determines maleness
55
how is sex determined in Drosophila
sex is determined by the ratio of X chromosomes to autosomes, they have 2 sets of autosomes - X:A = 1:1 => normal female - X:A = 1:2 => male (XO is a sterile male)
56
how is sex determined in some reptiles such as alligators
temperature of incubation
57
how is sex determined in some fish such as tropical clown fish
biggest is female, others are male; if female dies the next biggest fish becomes a biological female
58
define: mitosis
nuclear division that results in 2 daughter cells each containing identical numbers of chromosomes to the parent cell
59
define: meiosis
nuclear division that results in each egg and sperm containing half the number of chromosomes found in other (somatic) cells
60
define: haploid
1 copy of each chromosome
61
define: diploid
2 copies of each chromosome
62
what does n represent
1 complete set of chromosomes
63
define: homologous chromosomes
have the same genes, one chromosome from each parent
64
define: nonhomologous chromosomes
have different genes
65
define: centromere
site of constriction in each chromosomes, covered by a protein
66
define: chromatid
a single DNA molecule
67
define: sister chromatids
chromatids that contain identical alleles
68
what types of chromosomes pair at meiosis
homologous chromosomes
69
define: karyotype
the visual description of a complete set of chromosomes in one cell of an organism
70
what stage are chromosomes in for karyotypes
metaphase
71
what is trisomy 18
genetic disorder where there are 3 chromosome 18s
72
what are the effects of trisomy 18
- babies appear thin, frail, and have trouble feeding - often results in heart malfunctions, including holes between chambers, making it difficult to pump blood properly
73
what is trisomy 21
Down's syndrome

BIOL 239 (12 decks)

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