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Cytogenetics > Lesson 8 > Flashcards

Lesson 8 Flashcards

Classifications of Genetic Diseases

1
Q

Classification of genetic Diseases

A
  • Single Gene Defects (Mendelian)
  • Disorders with Multifactorial (Polygenic)
  • Cytogenetic Disorders
  • Disorders showing Atypical Patterns of Inheritance
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2
Q

Consequences of genome abnormality or mutation in a single gene; could be heritable/non-heritable and are visible since birth.

A

Single Gene Defects (Mendelian)

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3
Q

Types of Mendelian Disorders

A
  1. Autosomal (dom/rec)
  2. X-linked (dom/rec)
  3. Mitochondrial
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4
Q

Difference between Autosomal Dominant and Recessive mutations

A

Dom: expressed when only 1 copy of that mutation is present

Rec: requires 2 mutated copies for disease to develop

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5
Q

Difference between X-linked Dominant and Recessive mutations

A

Dom: Father = daughter
Mother = daughter & son

Rec: Father = carrier daughter (all unaffected)
Mother = only son affected; carrier daughter

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6
Q

Can affect both males and females but ONLY PASSED ON FEMALES; can appear in every generation

A

Mitochondrial

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7
Q

Huntington’s
Neurofibromatosis
Achondroplasia
Familial hypercholesterolemia

A

Autosomal Dominant

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8
Q

Tay-Sachs
Sickle cell anemia
Cystic fibrosis
Phenylketonuria (PKU)

A

Autosomal Recessive

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9
Q

Hypophatemic rickets (vit D res)
Ornithine transcarbamylase def

A

X-linked Dominant

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10
Q

Hemophilia A
Duchenne muscular dystrophy

A

X-linked Recessive

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11
Q

Leber’s hereditary optic neuropathy
Kearns-Sayre syndrome

A

Mitochondrial

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12
Q

An inherited condition that causes progressive degeneration of neurons in the brain

A

Huntington’s Disease

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13
Q

Cause of Mutation in Huntington’s Disease

A

HTT gene mutation (the CAG trinucleotide repeat)

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14
Q

A condition characterized by the formation of multiple neurofibromata and possible neuromas

A

Neurofibromatosis

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15
Q

Cause of Mutation in Neurofibromatosis

A

a change in the NF1 gene

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16
Q

inherited disease in which the muscles contract but have a decreasing ability to relax

A

Myotonic dystrophy

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17
Q

DMPK gene or CNBP gene

A

Cause of Mutation in Myotonic dystrophy

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18
Q

A genetic disorder of the red blood cell membrane that is characterized by the anemia, jaundice, and enlargement of the spleen

A

Hereditary spherocytosis

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19
Q

ANK1, SLC4A1, SPTB, or EPB42

A

Cause of mutation in Hereditary spherocytosis

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20
Q

An inherited bleeding disorder, in which clotting protein called von Willebrand factor is deficient or defective

A

Von Willebrands Disease

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21
Q

Cause of Mutation in Von Willebrands Disease

A

VWF gene

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22
Q

An inherited type of hyperlipidemia in which it is recognizable in childhood and due to the genetic defects in receptors and LDL

A

Familial hypercholesterolemia

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23
Q

LDLR gene, APOB gene, or PCSK9 gene

A

Cause of mutation in Familial hypercholesterolemia

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24
Q

A genetic disease characterized by acute neurovisceral attacks

A

Acute Intermittent porphyria

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25
Q

Cause of Mutation in Acute Intermittent porphyria

A

gene coding in HMBS

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26
Q

A heritable disorder of connective tissue that is characterized by easy bruising, joint hypermobility, skin laxity, and weakness of tissue

A

Ehler-Danlos Syndrome

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27
Q

COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, FKBP14 or ADAMTS2 gene

A

Cause of Mutation in Ehler-Danlos Syndrome

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28
Q

An inherited disorder of connective tissue that is charactized by abnormalities of the eyes, skeleton, and cardiovascular system

A

Marfan’s Syndrome

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29
Q

Cause of mutation in Marfan’s Syndrome

A

change in the FBN1 gene

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30
Q

A metabolic disease that is due to the inherited inability process the essential amino acid phenylanine

A

Phenylketonuria

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31
Q

Cause of mutation in Phenylketonuria

A

change in the PAH gene

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32
Q

A genetic disease that affects the exocrine glands and is characterized by the production of abnormal secretions

A

Cystic fibrosis

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33
Q

Cause of mutation in Cystic Fibrosis

A

gene CFTR (cystic fibrosis transmembrane conductance regulator) protein

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34
Q

A genetic blood disorder caused by the presence of an abnormal, sickle shaped form of hemoglobin

A

Sickle Cell Anemia

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35
Q

Cause of mutation in Sickle Cell Anemia

A

hemoglobin-Beta gene found in chromosome 11

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36
Q

An inherited disorder that causes progressive muscle weakness and loss of muscle mass

A

Duchenne Muscular Dystrophy

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37
Q

changes of the DMD gene on the X chromosome

A

Duchenne Muscular Dystrophy

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38
Q

An inherited disorder in which the ability of blood to clot normally is impaired

A

Hemophilia

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39
Q

Cause of mutation in Hemophilia

A

genetic changes in the F8 gene

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40
Q

The cause are the defects in multiple genes coupled with environmental factors

A

Multifactorial genetic disorders

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41
Q

Mutation in chromosome 19

A

Alzheimer’s disease

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42
Q

Code for stabilization the microtubule

A

Chromosome 19

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43
Q

Abnormal clumps of cellular debris and protein (plaques) and collapsed microtubules

A

Alzheimer’s

44
Q

Mutation in chromosome 5

A

Colon cancer

45
Q

Code for prevention of uncontrolled cell growth

A

Chromosome 5

46
Q

Develop growths called polyps in their colon; when not treated will develop into cancer

A

Colon cancer

47
Q

Mutation on chromosome 13 and 17

A

Breast cancer

48
Q

Code for tumor suppressor genes because they prevent uncontrolled cell growth

A

Chromosome 13 and 17

49
Q

Uncontrolled cell growth and cancer

A

Breast cancer

50
Q

Mutation on chromosome 2

A

Hypothyroidism

51
Q

Code for thyroid hormone production

A

Chromosome 2

52
Q

Altered production of thyroid hormone

A

Hypothyroidism

53
Q

Chromosomal aberrations in Cytogenetic Disorders vary in chromosome ___________

A

Structure and number

54
Q

Structural Aberration

A
  • Deletion (deficiency)
  • Duplication (Repeat)
  • Inversion
  • Translocation
55
Q

Two types of Deletion

A

Terminal
Interstitial (intercalary)

56
Q

4 Types of Duplication

A

Tandem
Reverse tandem
Displaced
Translocation

57
Q

2 Classification of Inversion

A

Paracentric
Pericentric

58
Q

Classification of Translocation

A

Simple
Shift
Reciprocal
Balanced
Unbalanced

59
Q

Numerical Aberration

A

Euploidy
Aneuploidy

60
Q

Classification of Aneuploidy

A

Nullisomy
Monosomy
Trisomy
Tetrasomy

61
Q

Chromosome structure can be altered in two primary ways:

A
  1. Change in amount
  2. Rearrangement
62
Q

Loss of chromosome segment

A

Deletion

63
Q

Results from single break near the end of the chromosome

A

Terminal deletion

64
Q

Two sections may be deleted if two breaks occur

A

Interstitial

65
Q

Deletion Cytogenetic Disorder

A

Cri-du-chat
Chronic myelocytic leukemia
Prader-Willi syndrome

66
Q

Occurrence of an additional chromosome segment

A

Duplication

67
Q

Occurs when the extra chromosome segment is somewhat located immediately after the normal segment in precisely the SAME ORIENTATION

A

Tandem

68
Q

When the gene sequence in the extra segment of a tandem is in reverse position

A

Reverse tandem

69
Q

Occurs when the extra segment may be located in the same chromosome but away from the normal segment

A

Displaced

70
Q

When the additional segment is located in a non-homologous chromosome

A

Translocation

71
Q

Duplication Cytogenetic Disorder

A

Charcot-Marie-tooth disease

72
Q

Occurs when a segment of chromosome is oriented in the reverse direction and such segment is said to be inverted

A

Inversion

73
Q

If the inverted INCLUDES the centromere

A

Paracentric

74
Q

If the inverted area DOES NOT INCLUDE the centromere

A

Pericentric

75
Q

Wherein a gene is repositioned in a way that alters its normal level of gene expression

A

Position effect

76
Q

Inversion Cytogenetic Disorder

A

Hemophilia type A

77
Q

It is the integration of a chromosome segment into a non-homologous chromosome

A

Translocation

78
Q

Terminal segment of a chromosome is integrated at ONE END of a non-homologous chromosome

A

Simple

79
Q

An intercalary segment of a chromosome is integrated WITHIN a non-homologous chromosome

A

Shift

80
Q

Produced when two non-homologous chromosomes EXCHANGE segments or when segments are reciprocally transferred

A

Reciprocal

81
Q

NO phenotypic consequences

A

Balanced

82
Q

ASSOCIATED WITH phenotypic abnormalities and sometimes death

A

Unbalanced

83
Q

Example of Unbalanced

A

familial Down syndrome

84
Q

Variation in the number of SETS of chromosomes

A

Euploidy

85
Q

Variation in the number of A PARTICULAR chromosome

A

Aneuploidy

86
Q

Loss or gain of one or more chromosome

A

Aneuploidy

87
Q

Loss of ONE HOMOLOGOUS chromosome

A

Nullisomy (2n-2)

88
Q

Loss of a SINGLE chromosome

A

Monosomy (2n-1)

89
Q

ONE EXTRA chromosome

A

Trisomy (2n+1)

90
Q

one EXTRA chromosome PAIR

A

Tetrasomy (2n+2)

91
Q

Cat cry syndrome
Microcephaly
Broad face, saddle nose
retardation (mental & physical)

A

Cri-du-chat Syndrome

92
Q

Deficiency in the SHORT arm of chromosome 5

A

Cri-du-chat Syndrome

93
Q

Deletion of chromosome 22 (Philadelphia chromosome)

A

Chronic myelocytic leukemia

94
Q

Deletion on the LONG arm of chromosome 15

A

Prader-Willi syndrome

95
Q

Small duplication in the SHORT arm of chromosome 17 = peripheral neuropathy

A

Charcot-Marie-tooth disease

96
Q

Inversion disrupting the gene for factor VIII

A

Hemophilia type A

97
Q

Occurs as an exchange of genetic material between chromosome 9 and 22

A

Chronic Myelogenous Leukemia

98
Q

“Mongolism”
short stature, epicanthal fold, broad short skulls, wild nostrils
EXTRA chromosome 21

A

Down Syndrome

99
Q

Trisomy 21 wherein LONG arm of chromosome 21 joins with long arm of chromosome 14 or 15

A

Robertsonian translocation

100
Q

Arises when carrier parents (heterozygotes) mate with normal parents

A

Familial Down Syndrome

101
Q

Trisomy 13 (47+13)
mental retardation, growth failure, low set deformed ears, deafness, polydactyl

A

Patau’s Syndrome

102
Q

Trisomy 18 (47+18)
open skull sutures at birth, rocker bottom feet, high arched eyebrows

A

Edward’s Syndrome

103
Q

Product of nondisjunction during gametogenesis
Results from MONOSOMY of SEX chromosomes in FEMALES (45, XO)

A

Turner’s Syndrome

104
Q

Exhibit chromosome
47, XXY
48, XXXY
48, XXYY
49, XXXXY
50, XXXXXY

A

Klinefelter’s Syndrome

105
Q

Females with THREE or MORE X chromosomes

A

Poly-X females (44XXX)

106
Q

Occurs in males resulting from nondisjunction during spermatogenesis

A

Jacob’s Syndrome (44XYY)

Cytogenetics (11 decks)

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