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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
Cause of Mutation in Acute Intermittent porphyria
gene coding in HMBS
26
A heritable disorder of connective tissue that is characterized by easy bruising, joint hypermobility, skin laxity, and weakness of tissue
Ehler-Danlos Syndrome
27
COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, FKBP14 or ADAMTS2 gene
Cause of Mutation in Ehler-Danlos Syndrome
28
An inherited disorder of connective tissue that is charactized by abnormalities of the eyes, skeleton, and cardiovascular system
Marfan's Syndrome
29
Cause of mutation in Marfan's Syndrome
change in the FBN1 gene
30
A metabolic disease that is due to the inherited inability process the essential amino acid phenylanine
Phenylketonuria
31
Cause of mutation in Phenylketonuria
change in the PAH gene
32
A genetic disease that affects the exocrine glands and is characterized by the production of abnormal secretions
Cystic fibrosis
33
Cause of mutation in Cystic Fibrosis
gene CFTR (cystic fibrosis transmembrane conductance regulator) protein
34
A genetic blood disorder caused by the presence of an abnormal, sickle shaped form of hemoglobin
Sickle Cell Anemia
35
Cause of mutation in Sickle Cell Anemia
hemoglobin-Beta gene found in chromosome 11
36
An inherited disorder that causes progressive muscle weakness and loss of muscle mass
Duchenne Muscular Dystrophy
37
changes of the DMD gene on the X chromosome
Duchenne Muscular Dystrophy
38
An inherited disorder in which the ability of blood to clot normally is impaired
Hemophilia
39
Cause of mutation in Hemophilia
genetic changes in the F8 gene
40
The cause are the defects in multiple genes coupled with environmental factors
Multifactorial genetic disorders
41
Mutation in chromosome 19
Alzheimer's disease
42
Code for stabilization the microtubule
Chromosome 19
43
Abnormal clumps of cellular debris and protein (plaques) and collapsed microtubules
Alzheimer's
44
Mutation in chromosome 5
Colon cancer
45
Code for prevention of uncontrolled cell growth
Chromosome 5
46
Develop growths called polyps in their colon; when not treated will develop into cancer
Colon cancer
47
Mutation on chromosome 13 and 17
Breast cancer
48
Code for tumor suppressor genes because they prevent uncontrolled cell growth
Chromosome 13 and 17
49
Uncontrolled cell growth and cancer
Breast cancer
50
Mutation on chromosome 2
Hypothyroidism
51
Code for thyroid hormone production
Chromosome 2
52
Altered production of thyroid hormone
Hypothyroidism
53
Chromosomal aberrations in Cytogenetic Disorders vary in chromosome ___________
Structure and number
54
Structural Aberration
- Deletion (deficiency) - Duplication (Repeat) - Inversion - Translocation
55
Two types of Deletion
Terminal Interstitial (intercalary)
56
4 Types of Duplication
Tandem Reverse tandem Displaced Translocation
57
2 Classification of Inversion
Paracentric Pericentric
58
Classification of Translocation
Simple Shift Reciprocal Balanced Unbalanced
59
Numerical Aberration
Euploidy Aneuploidy
60
Classification of Aneuploidy
Nullisomy Monosomy Trisomy Tetrasomy
61
Chromosome structure can be altered in two primary ways:
1. Change in amount 2. Rearrangement
62
Loss of chromosome segment
Deletion
63
Results from single break near the end of the chromosome
Terminal deletion
64
Two sections may be deleted if two breaks occur
Interstitial
65
Deletion Cytogenetic Disorder
Cri-du-chat Chronic myelocytic leukemia Prader-Willi syndrome
66
Occurrence of an additional chromosome segment
Duplication
67
Occurs when the extra chromosome segment is somewhat located immediately after the normal segment in precisely the SAME ORIENTATION
Tandem
68
When the gene sequence in the extra segment of a tandem is in reverse position
Reverse tandem
69
Occurs when the extra segment may be located in the same chromosome but away from the normal segment
Displaced
70
When the additional segment is located in a non-homologous chromosome
Translocation
71
Duplication Cytogenetic Disorder
Charcot-Marie-tooth disease
72
Occurs when a segment of chromosome is oriented in the reverse direction and such segment is said to be *inverted*
Inversion
73
If the inverted INCLUDES the centromere
Paracentric
74
If the inverted area DOES NOT INCLUDE the centromere
Pericentric
75
Wherein a gene is repositioned in a way that alters its normal level of gene expression
Position effect
76
Inversion Cytogenetic Disorder
Hemophilia type A
77
It is the integration of a chromosome segment into a non-homologous chromosome
Translocation
78
Terminal segment of a chromosome is integrated at ONE END of a non-homologous chromosome
Simple
79
An intercalary segment of a chromosome is integrated WITHIN a non-homologous chromosome
Shift
80
Produced when two non-homologous chromosomes EXCHANGE segments or when segments are *reciprocally* transferred
Reciprocal
81
NO phenotypic consequences
Balanced
82
ASSOCIATED WITH phenotypic abnormalities and sometimes death
Unbalanced
83
Example of Unbalanced
familial Down syndrome
84
Variation in the number of SETS of chromosomes
Euploidy
85
Variation in the number of A PARTICULAR chromosome
Aneuploidy
86
Loss or gain of one or more chromosome
Aneuploidy
87
Loss of ONE HOMOLOGOUS chromosome
Nullisomy (2n-2)
88
Loss of a SINGLE chromosome
Monosomy (2n-1)
89
ONE EXTRA chromosome
Trisomy (2n+1)
90
one EXTRA chromosome PAIR
Tetrasomy (2n+2)
91
Cat cry syndrome Microcephaly Broad face, saddle nose retardation (mental & physical)
Cri-du-chat Syndrome
92
Deficiency in the SHORT arm of chromosome 5
Cri-du-chat Syndrome
93
Deletion of chromosome 22 (Philadelphia chromosome)
Chronic myelocytic leukemia
94
Deletion on the LONG arm of chromosome 15
Prader-Willi syndrome
95
Small duplication in the SHORT arm of chromosome 17 = peripheral neuropathy
Charcot-Marie-tooth disease
96
Inversion disrupting the gene for factor VIII
Hemophilia type A
97
Occurs as an exchange of genetic material between chromosome 9 and 22
Chronic Myelogenous Leukemia
98
"Mongolism" short stature, epicanthal fold, broad short skulls, wild nostrils EXTRA chromosome 21
Down Syndrome
99
Trisomy 21 wherein LONG arm of chromosome 21 joins with long arm of chromosome 14 or 15
Robertsonian translocation
100
Arises when carrier parents (heterozygotes) mate with normal parents
Familial Down Syndrome
101
Trisomy 13 (47+13) mental retardation, growth failure, low set deformed ears, deafness, polydactyl
Patau's Syndrome
102
Trisomy 18 (47+18) open skull sutures at birth, rocker bottom feet, high arched eyebrows
Edward's Syndrome
103
Product of nondisjunction during gametogenesis Results from MONOSOMY of SEX chromosomes in FEMALES (45, XO)
Turner's Syndrome
104
Exhibit chromosome 47, XXY 48, XXXY 48, XXYY 49, XXXXY 50, XXXXXY
Klinefelter's Syndrome
105
Females with THREE or MORE X chromosomes
Poly-X females (44XXX)
106
Occurs in males resulting from nondisjunction during spermatogenesis
Jacob's Syndrome (44XYY)

Cytogenetics (11 decks)

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