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Human Genetics test 1 Flashcards

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Biology 101 flashcards
1
Q

when will you see a chromatid?

A

in the DNA duplication phase during the S phase of the cell cycle back in interphase (mitosis or meiosis

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2
Q

def of centromere?

A

single connecting piece of protein that holds the two chromatids together

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3
Q

what is the chromosome compliment in humans?

A

diploidy (23 pairs 46 chromosomes)

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4
Q

def of autosomes?

A

22 homologous pairs behaved indepently from eachother and are not directly related to the sex of the individual

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5
Q

what are the three basic ways to identify chromosomes?

A

size, centromere location, staining and banding

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6
Q

def of metacentric?

A

centroemre is n the middle

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7
Q

def of submetacentric?

A

little off of the center

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8
Q

def of acrocentric?

A

near the end of the tip

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9
Q

def of chromosome satellites?

A

small masses of the chromosomes that are bulged that contain DNA for ribosomal synthesis

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10
Q

what is the paris conference system?

A

after various chemical staining treatments you can read the chromosomes as a bar code

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11
Q

what is the International System of Human Chromosome Nomenclature?

A

the thing that we use today

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12
Q

what is the P arm?

A

the short arm

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13
Q

what is the q arm?

A

long arm

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14
Q

how is a karyotype conventionally abbreviated?

A

listing the total number of chromosomes, followed by sex chromosomes, followed by any derangement in the chromosomes

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15
Q

what does the modern way of karyotyping helpful with?

A

revealing major and minor deletions, duplications, larger rearrangements and translocations

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16
Q

def of euploidy

A

having a complete set of chromosomes

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17
Q

def of haploidy

A

one complete set

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18
Q

def of diploidy?

A

2 complete sets

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19
Q

def of aneuploidy?

A

where one chromosome is missing or an extra one is present

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20
Q

def of monosomy?

A

a chromosome is missing from a homologous pair

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21
Q

how many total chromosomes in monosomy?

A

45

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22
Q

def of trisomy?

A

a chromosome is added to a homologous pair

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23
Q

how is trisomy described?

A

2N+1

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24
Q

how many total chromosomes in trisomy?

A

47

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25
Q

what is the facies of down syndrome?

A

oblique palpebral fissures, epicanthic folds

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26
Q

what are the neurological signs of down syndrome?

A

hypotonia, mental retardation

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27
Q

what percentage of mental retardation is from down syndrome?

A

1/3rd

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28
Q

how can you screen for down syndrome?

A

amniocentesis, chorionic-villus sampling, ULTRASOUND OF NUCHAL AREA TRANSLUCENCY

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29
Q

what is the recurrent risk of women under 40?

A

about 1 percent

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30
Q

how are aneuploidy’s get made?

A

produced from non disjunction durning anaphase (one or two)

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31
Q

def of deletion?

A

partial monosomy wherein a piece of a chromosme is deleted

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32
Q

what is prader-willi and angelman syndrome?

A

disorders involving a spontaneous deletion of 15q11 to 15q13

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33
Q

prader-willi is a defect of paternal or maternal homolouge?

A

paternal

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34
Q

Angelman syndrome is a defect of a paternal or maternal homolouge?

A

maternal

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35
Q

def of imprinting?

A

a phenomenon whereby inherited chromosomes from one parent are modified such that the genes at that location are not properly expressed

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36
Q

what is cri du chat syndrome?

A

a rare disorder involving a spontaneous deletion from 5p14 to 5p15

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37
Q

what are the symptoms cri du chat?

A

cats cry syndrome, cat like cry during infancy

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38
Q

def of duplication?

A

a piece of a chromosome is duplicated

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39
Q

what do significant duplications revealed as?

A

added or altered bands (smaller difficult to detect)

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40
Q

what is pallister killian syndrome? (fyi)

A

duplication on 12

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41
Q

Inversion def?

A

wherein a piece of chromosome is flipped around or inverted

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42
Q

where do you see significant inversions?

A

as reversed bands and the centromere may be in different spot

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43
Q

translocation def?

A

two chromosomes break and exchange places

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44
Q

what percent of trisomy 21 are translocation?

A

5.00%

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45
Q

what are the potential offspring of translocation down syndrome

A

normal, monosomy 21 (nonviable), translocation down sydrome, translocation down sydrome “carrier” (normal)

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46
Q

what is chronic myelogenous leukemia?

A

rare cancer though a common form of leukemia with an exchange b/t chromosome 9 and 12 t(9:22)

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47
Q

what is the “philadelphia chromosome?”

A

t(9:22) which is seen as a stubby chrom 22

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48
Q

what is the ratio of live births with a chromosome deformity?

A

1 in 200

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49
Q

what percentage of recognizable pregnancies abort?

A

15.00%

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50
Q

what percentage of miscarriages conceptuses have a normal karyotype?

A

about 1/2 of 15% of recognizable pregnancies

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51
Q

how common are chromosomal defects in any type of pregnancy (miscarrage or not)

A

01/01/00

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52
Q

what percentage of livebirths are chromosomally abnormal?

A

0.6% (50:8,500)

53
Q

what is the incidence of a chromosomal disease a function of?

A

function of the conceptus production rate AND the likelihood of in utero survival

54
Q

what does repeated miscarriages suggestive of?

A

a chromosomal defect in either one or both rents

55
Q

what are the roles of meiosis?

A

formation of gametes, reduction of chromosome number, random assortment, and crossing over

56
Q

def of random assortment?

A

jumbling of maternal and paternal chromos

57
Q

def of crossing over?

A

jumbling of maternal and paternal chromosomal segments

58
Q

what is meiosis 1?

A

separation of homologous pairs

59
Q

what is meiosis 2?

A

separation of chromatids

60
Q

what is pre-meiotic interphase?

A

only chromaTIN visable in nucleus as DNA double

61
Q

what is prophase 1?

A

chromoSOMES appear and cont. condensing

62
Q

what is metaphase 1?

A

HOMOLOGOUS PAIRS of chromosomes line-up on an equatorial plane and are attached to a spindle apparatus

63
Q

what is anaphase?

A

separationof homologous pairs

64
Q

def of disjunction?

A

separation of homologous pairs

65
Q

what is telophase?

A

reconstruction of the nuclei and division of the cytoplasm

66
Q

what is prophase 2?

A

recoiling of chromosomes to managable size

67
Q

what is metaphase 2?

A

single chromo line up on equatorial plane and attach to a new spindle apparatus

68
Q

what is anaphase 2?

A

separation of chromaTIDS

69
Q

def of telophase 2?

A

final reconstruction period: chromosomes uncoil to chromaTIN

70
Q

what is post-meiotic interphase?

A

two haploid daughter cells created

71
Q

how many cells will you see at the end of meiosis?

A

4

72
Q

do each of the new cells at the end of meiosis have the same amount of DNA compared to the start?

A

yes

73
Q

def of gene?

A

1) a nucleotide coding for a specific protein. 2) the smallest unit of biological function

74
Q

what is the DNA organization?

A

Nucleotides>codons>domains>genes>gene clusters> Chromosome bands> chromosome arms> chromosomes> karyotype

75
Q

how many genes are in the human genome?

A

25000

76
Q

how many different base pairs are in the human genome?

A

3 billion and 99% are non-coding

77
Q

def polymorphisms

A

significant allelic variation

78
Q

what does it mean for a gene to be conserved?

A

the critical genes for metabolic function donﾒt vary too much

79
Q

def mutant allele

A

some variant, does not have to be bad

80
Q

what are point mutations?

A

the most common mutation where a single base pair changes. Which may or may not cause changes in the final polypeptide

81
Q

def of genotype

A

the genetic constitution of an individual organism

82
Q

def of phenotype?

A

a set of observable characteristics of an individual from the interaction of its genotype with the enviroment

83
Q

def of incomplete dominance?

A

niether allelic form in a heterozygote is fully expressed, producing intermediate phenotypes beyond the basic combos of multiple heterozygous forms

84
Q

def of mutation?

A

any change in genetic material

85
Q

what is the class of disease is sickle cell anemia part of?

A

hemoglobinopathies

86
Q

what causes sickle cell anemia

A

single base pair substitution in the beta-globulin gene on chromosome 11

87
Q

what are the two broad sources of mutations?

A

radiation and chemicals

88
Q

what are the things that cause radation mutations?

A

cosmic rays, solar energy, radioactive decay and x-rays

89
Q

what re the things that cause chemical mutations?

A

(AKA mutagens) polycyclic aromatic hydrocarbons,, and oxidative agents

90
Q

what is a tautomeric shift?

A

the nucleotide thiymine can shift into its -enol form where it can then pair with guanine not adenine

91
Q

what did hermann muller do?

A

in 1927 showed that x-rays are mutagenic

92
Q

what did charlotte auerback do?

A

in 1941 showed that mustard gays is mutagenic

93
Q

def of loss-of-function mutation?

A

loss of the genes function;later seen to be recessive

94
Q

def of gain-of-function mutation?

A

gene gains a function; later seen to be dominant

95
Q

def of dominant negative mutations?

A

acts as a antagonistically to othe normal state; later seen to be dominant or co-dominant

96
Q

def of lethal mutations

A

worst possible dna change.. Often in urero

97
Q

def of genetic load?

A

a somatic cell accumulates about 30 new mutations in a lifetime

98
Q

what is gene expression “about”?

A

health and disease

99
Q

def of epigenetics?

A

trying to understand the gene expression which will show what it means to have a genetic disease

100
Q

def structural genes?

A

code for components in or out of the cell

101
Q

what happens if a structural gene fails?

A

dominant negative mutations

102
Q

def of metabolic genes?

A

code ofr metabolic components that control reactions

103
Q

what happens if a metabolic gene fails?

A

usually recessive mutation

104
Q

what is harrtnup disease?

A

defective tryptophan transport across membrane (Ta)

105
Q

in hartnup disease is the diseased gene dominant or recessive?

A

homozygous recessive= hh

106
Q

what is the clinical feature of hartnup disease?

A

niacin deficiency

107
Q

what is galactosemia?

A

disorder of defective carbohydrate metabolism inside cell (Ebc) which leads to an accumulation of galactose in gut

108
Q

in galactosemia is the diseased gene dominant or recessive?

A

homozygous recessive= hh

109
Q

clinical features of galactosemia?

A

gi problems, cataracts, cirrhosis

110
Q

what is albinism?

A

a disorder of amino acid metabolism (Eab) which results in a defiency of melanin in regularly pigmented tissues

111
Q

in albanism is the diseased gene dominant or recessive?

A

homozygous recessive= hh

112
Q

what is PKU?

A

a disorder of amino acid metabolism (Eab and F and G) which results in an accumlation of phenyalanine in the body because it can not be changed to tyrosine by phenylalanine hydroxylase

113
Q

in PKU is the diseased gene dominant or recessive?

A

homozygous recessive= hh

114
Q

what are the symptoms of PKU?

A

severe mental retardation, hypo-pigmentation, and unusual odor

115
Q

what is Lesch-Nyhan syndrome?

A

disorder of purine metabolism inside of the cell which results in deficiency of adenosine and the accumulation of uric acid

116
Q

what sex will you see lesch-nyhan?

A

since itﾒs on the x chromosome and the mutant allele is recessive you only see it in males

117
Q

wgat are the symptoms of lesch nyhan?

A

mental retardation, HYPERURICEMIA

118
Q

def of gradual onset of metabolism?

A

metabolite needs time to accumulate to cause problem

119
Q

def of unusual dietary response to metabolism?

A

to a metabolite that cannot be metabolized

120
Q

what is the Iac operon in prokaryotes?

A

a promoter sequence sits next to a series of genes that control the production of the enzymatic machinery to digest lactose

121
Q

what is the homeobox (HOX)?

A

highly conserved, gene grouping that code for transcription factor that regulates the cascade expression

122
Q

where will you see HOX?

A

chromosomes 2,7,12,17

123
Q

what is the function of HOX?

A

control patterning of the body axis and the resultant development of body organs

124
Q

def of variable expressivity?

A

variable presentation of phenotype and remember that enviroment may play a role in the phenotype

125
Q

def of penetrance

A

expression/non-expression of a dominant gene

126
Q

when a disease has less than 100% penetrance what do you do?

A

take an expected probability and multiply it by the percent penetrance

127
Q

def of pleiotropy?

A

where one gene effects mulitple traits (in cats single gene does white fur, blue eyes and blindness)

128
Q

how is monosomy described?

A

2N-1

Human Genetics (2 decks)

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