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CYTOGENETICS > MIDTERM TOPICS > Flashcards

MIDTERM TOPICS Flashcards

1
Q

discovered that hereditary characteristics were determined by elementary units transmitted between generations in uniform predicatable manner

A

GREGOR MENDEL

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2
Q

Mendelian Principles

A
  • principles of independent segregation
  • principles of independent assortment
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3
Q

states that alleles in one gene pair separate clearly from each other during meiosis

exhibit monohybrid inheritance

A

principles of independent segregation

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4
Q

states that alleles of the different gene pairs separate clearly from each other and randomly combine during fertilization

exhibit dihybrid inheritance

A

principles of independent assortment

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5
Q

condition when one allele marks the expression of other allele

represented by a capital letter

A

dominance

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6
Q

expresses trait or character

A

dominance

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7
Q

allele that does not function when two different alleles are present in an organism

represented by a small letter

A

recessive

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8
Q

hidden traits or character

A

recessive

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9
Q

cells having different alleles at a given locus on homologous chromosome

Hh

A

heterozygous

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10
Q

cell having identical alleles at a given locus on a homologous chromosome

HH, hh

A

homozygous

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11
Q

physical expression of trait/character, physical outlook or organism

A

phenotype

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12
Q

genetic expression of trait/character, genetic makeup

A

genotype

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13
Q

cross between individuals that have different alleles at one gene locus

A

monohybrid inheritance

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14
Q

cross with only 1 trait

A

complete dominance

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15
Q

cross with 2 traits

A

incomplete dominance

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16
Q

Most common incomplete dominance

A
  • tay-sach’s disease
  • sickle cell disease
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17
Q

homozygosity for a recessive allele

A

tay-sach’s disease

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18
Q

failure to produce an enzyme hexosaminidase A

A

tay-sach’s disease

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19
Q

paralysis and degeneration of the retina

A

Tay-sach’s disease

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20
Q

death before age of 4

A

tay-sach’s disease

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21
Q

no treatment

A

tay-sach’s disease

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22
Q

caused by incompletely dominant alleles

A

sickle cell disease

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23
Q

caused by single nucleotide mutation resulting to abnormal hemoglobin

A

sickle cell disease

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24
Q

the cells can result in clumping and can interfere with blood circulation leading to local failures in blood supply

A

sickle cell disease

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25
Q

will result in damage to the heart, lungs, kidneys, muscles, joints, and brain

A

sickle cell disease

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26
Q

relationship of the alleles such that the phenotype of the heterozygote shows the individual expressions of each allele

A

co-dominance

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27
Q

two alleles affect the phenotype in separate and distinguishable ways

A

co-dominance

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28
Q

neither allele can mask the other and both are expressed in the offspring and not in the intermediate form

A

co-dominance

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29
Q

example of co-dominance

A

MNSs blood group system

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30
Q

the only recessive blood type

A

type O

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31
Q

what gene do we assume that a blood type has

A

heterozygous

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32
Q

what do we always use in determining the possibble blood type of an offspring

A

AO,BO

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33
Q

biological system that determines the development of sexual characteristics in an organism

A

sex determination system

34
Q

how many pairs of homologous chromosome do we have?

A

23

35
Q

how many pairs of autosome/non sex chromosome do we have?

A

22

36
Q

how many pair of sex chromosome do we have?

A

1

37
Q

sex of an individual is determined by:

A

X and Y chromosomes

38
Q

inactive, densely stain condensed X chromosome located near the nuclear membrane in nuclei of somatic cells of XX females

A

barr body

39
Q

medium sized type of sex chromosome

A

X

40
Q

small size type of sex chromosome

A

Y

41
Q

medium length type of sex chromosome

A

X

42
Q

average length type of sex chromosome

A

Y

43
Q

this sex chromosome is sub-metacentric

A

X

44
Q

this sex chromosome is acrocentric

A

Y

45
Q

the centromere of this chromosome is nearly central

A

X

46
Q

the centromere of this sex chromosome is nearly terminal

A

Y

47
Q

this sex chromosome does not have a banding

A

X

48
Q

the type of banding Y chromosome has

A

fluorescent banding

49
Q

has something to do with the nature of the chromosome

A

genetic sex

50
Q

refers to the reproductive tissues and glands

A

gonadal sex

51
Q

refers to the development of the genitalia and hormanal influence

A

genital sex

52
Q

refers to the development of secondary sex characteristics which are influenced by hormones

A

somatic sex

53
Q

refers to the attitude

A

sociophysiological sex

54
Q

genetic characteristics determined by genes, which are located on the sex chromosome

A

sex linked traits

55
Q

genes that are found on the sex chromosomes

A

sex linked genes

56
Q

if a gene is located on y chromosome

A

Y-linked gene

57
Q

genes only inherited by males

A

Y-linked gene

58
Q

genes found on X chromosome

A

X-linked gene

59
Q

can be inherited by both males and females

A

X-linked gene

60
Q

the trait is transmitted by the mother to the son

A

X-linked recessive trait

61
Q

expressed in males

A

X-linked recessive traits

62
Q

Forms of X-linked recessive trait

A
  • hemophilia
  • color blindness
  • albinism
  • G6PD
  • Lesch-Nyhan Syndrome
  • Ectodermal Dysphasia (anhidrotic)
  • Angiokeratoma (Fabry’s disease)
  • Menke’s Syndrome
  • Muscular Dystrophy
  • Retinitis Pigmentosa
  • Ichtyosis
  • Hunter’s Syndrome
63
Q

blood disorder in which certain blood clotting factors are not produced

A

hemophilia

64
Q

result in excessive bleeding that can damage the organs and tissues

A

hemophilia

65
Q

inability to form a blood clot due to lack of clotting factor 8

A

hemophilia A

66
Q

characterized by the absence of clotting factor 9

A

hemophilia B

67
Q

affected person is insensitive to red light about 25-45%

A

protan color blindness

68
Q

the person is insensitive to green light about 60-75%

A

Deutan color blindness

69
Q

trait is transmitted by father to his daughter

A

X-linked dominant trait

70
Q

phenotype is expressed in both males and females who have an X chromosome that contains abnormal gene

A

X-linked dominant trait

71
Q

refers to genetic conditions associated with mutations in genes on the X chromosome

A

X-linked dominant trait

72
Q

traits that can only be inherited by the sons, never by the daughters

A

Y-linked traits

73
Q

father to son transmission of trait

A

holandric genes

74
Q

Most common Y-linked traits in human

A
  • porcupine man
  • webbed toes
  • hypertichosis of the ears
75
Q

a man in which the whole body is covered with rough, bristly scales (except soles, palms, head and face)

A

porcupine man

76
Q

characterized by web-like connection between second and third toe

A

webbed toes

77
Q

conspicuous growth of hair on the outer rim of the ears

A

hypertichosis of the ears

78
Q

human traits that do not fall under the category of X and Y linked are considered sex limited and sex influenced genes

A

sex linked genes

79
Q

inherited by both men and women but are normally expressed only in the phenotype of one of them

A

sex limited genes

80
Q

pre existing dominance relationship between alleles that are altered according to the sex of the individual

A

sex influenced genes

CYTOGENETICS (5 decks)

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