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Pathology 1 > Chapter 6 > Flashcards

Chapter 6 Flashcards

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1
Q

What is the genome

A

An organisms genetic material

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2
Q

What is a Gene

A

Discrete set of nucleotides

A unit of inheritance

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3
Q

What is an Allele

A

A single gene locus

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4
Q

What is a Mutation

A

Permanent changes in DNA

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5
Q

What is a Hereditary mutation

A

A mutation to germ cells

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6
Q

What is a acquired mutation

A

A mutation to somatic cells

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7
Q

What is a point mutation

A

a single nucleotide is replaced by another and codes for an alternate AA

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8
Q

what is another name for a point mutation

A

missense mutation

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9
Q

What is a frameshift mutation

A

Insertion/deletion of 1 or 2 nucleotides (alters the reading frame)

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10
Q

What is a trinucleotide repeat

A

Amplification of a sequence of 3 nucleotides

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11
Q

What are single gene mutations also known as

A

Mendelian disorders

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12
Q

What are multifactorial inheritance mutations known as

A

Multigenic, or polygenic

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13
Q

What are the 4 categories of genetic disorders

A

Single gene mutations
Multifactorial inheritance
Chromosomal abnormalities
atypical inheritance

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14
Q

What category of mutations is the most rare

A

Single-gene mutations

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15
Q

What are the methods of inheritance

A

Autosomal dominant
Autosomal recessive
X-linked recessive

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16
Q

What is Pleiotropy

A

A single mutation may have a variety of phenotypic effects

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17
Q

What is genetic heterogeneity

A

Multiple mutations may be expressed as the same trait

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18
Q

What does it mean to have an autosomal dominant mutation

A

Only need one mutated gene to have disease

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19
Q

What do autosomal dominant mutations often affect

A

Structural proteins

Membrane receptros

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20
Q

What are the factors associated with autosomal dominant disorders

A 
Reduced penetrance
Variable expressivity (may or may not show phenotype)
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21
Q

What is the largest group of mendelian disorders?

A

Autosomal recessive

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22
Q

How many genes need to be mutated for a phenotype to show.

A

2

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23
Q

Is autosomal dominant or recessive associated with early onset/late onset

A 
Dominant = Late
Recessive = early
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24
Q

what type of autosomal disorder is associated with inbreeding

A

Autosomal recessive

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25
What is a sex linked single gene mutation
X-linked disorders
26
What is the chance that the daughter and son have a bad X gene if mom has a bad X gene
50%
27
What is the chance that a daughter will get a mutated X if dad has a mutated X
100%
28
What type of single gene mutation is Marfan syndrome
Autosomal dominanat
29
What gene is mutated in marfan synrome
Fibrillin gene
30
What are some skeletal defects in marfan syndrom
``` Slender habitus Scoliosis Long limbs High arched palate Hypermobility ```
31
What potential fatal problem is associated with marfan syndrome
Ruptured aorta
32
What is the main problem with EHlers-Danlos syndrome
Defective collagen synthesis
33
What is characteristic of Ehlers-Danlos syndrome
Hyperextendsible skin | Hypermobile joints
34
What are problems associated with Ehlers-Danlos syndrome
Joint problems poor healing pneumothorax
35
What type single gene mutation is associated with Familial hypercholesterolemia
Autosomal dominant
36
What is the problem with Familial hypercholesterolemia
Impaired LDL transport + Catabolism
37
What increases the severity for Familial hypercholesterolemia
Whether the gene is Homozygous or heterozygous
38
What is associated with adult onset (heterozygous) of Familial hypercholesterolemia
Xanthomas (cholesterol deposit on tendon) | Premature atherosclerosis
39
What is associated with childhood (homozygous) onset of Familial hypercholesterolemia
Xanthomas | CAD (Lethal)
40
What type of single gene mutation is Cystic fibrosis
Autosomal recessive
41
What gene is mutated in cystic fibrosis
CFTR gene Causes a decrease in chloride ion transport
42
What is cystic fibrosis associated with
Chronic pulmonary infections Pancreatic insufficiency Male infertility (absent vas deferens) Very viscous mucus
43
What type of single gene mutation is Phenylketonuria (PKU)
Autosomal recessive
44
What is the main issue with PKU
can't metabolize phenylalanine | it builds up and is a neurotoxin
45
What is associated with PKU
Mental retardation Musty urine and sweat Failed tyrosine production
46
What is the treatment for PKU
restrict phenyalanine | Supplement tyrosine
47
What is the issue with maternal PKU
Phenyalanine is teratogen (can cross placenta) | Causes problems with fetus
48
What type of single gene mutation is associated with Galactosemia
Autosomal recessive
49
What is the mutated gene in Galactosemia and what does it cause
Gene: GALT Abnormal galactose metabolism
50
What happens to galactose in Galactosemia
galactose-1-phosphate accumulates
51
What happens when galactose-1-phosphate accumulates
it is toxic to CNE neurons, liver, lens of eye and kidneys
52
How long does an infant last that has Galactosemia?
no more than a few weeks
53
how do you treat an infant with galactosemia
Restrict galactose intake (from lactose)
54
What type of single gene mutation is associated with lysosomal storage disaeses
Autosomal recessive
55
What is a common problem with a lysosomal storage disease
There is a lack of lysosomal enzymes causing metabolites to accumulate and are stored within lysosomes
56
What are the 4 types of lysosomal storage diseases discussed in class
``` Tay-sachs disease Niemann-pick disease type A & B Niemann-pick disease type C Gaucher disease Mucopolysaccharidosis ```
57
What is the problem with Tay-sachs disease
The inability to metabolize Gm2 Gangliosides
58
What does tay-sachs disease cause
Mental retardation Blindness morot weakness Death by age 2-3
59
What group is at a higher risk of tay-sachs disease
Ashkenazi jews
60
What is the problem with Niemann-pick disease type A and B
Accumulation of sphingomyelin in the liver, neurons, spleen, marrow, lymph nodes and lungs
61
What is different about Niemann-pick disease type C
Defective lipid transport
62
What type of niemann-pick disease is most severe
Type A (death by 3 years)
63
What type of niemann-pick is most common
Type C
64
What type of niemann-pick disease causes no neuo damage
Type B
65
What are the features of Niemann-pick type C
``` Childhood onset Ataxia Dystonia Dysarthria Variable prognosis ```
66
What is mutated in Gaucher disease
Glucocerebrosidase gene
67
What happens in gaucher disease
Glucocerebroside accumulates causing an enlargment of phagocytes
68
how many types of Gaucher disease is there
3
69
what is the most common type of gaucher disease
Type 1
70
What group of people is type 1 gaucher disease most common in
Ashkenazi jews
71
How do you treat gaucher disease
Enzyme replacement therapy
72
What is the main problem with Mucopolysaccharidosis
There is a deficiency in ECM breakdown enzymes
73
What happens to mucopolysaccharides in mucopolysaccharidosis?
Mucopolysaccharides accumulate in lysosomes
74
What skeletal deformation is strongly associated with mucopolysaccharidosis
Gargoylism
75
What are the two types of mucopolysaccharidosis discussed in class
``` Hurler syndrome (type 1) Hunter syndrome (type 2) ```
76
What type of single gene mutation causes Hurler syndrome
Autosomal recessive
77
What type of single gene mutation causes Hunter syndrome
X-linked
78
What type of mucopolysaccharidosis is associated with corneal clouding, skeletal abnormalities, mental retardation
Hurler syndrome
79
What type of mucopolysaccharidosis is mild, has no corneal clouding and is slow to progress
Hunter syndrome
80
What is Glycogenoses
Glycogen storage diseases
81
What type of single gene mutation is associated with Glycogen storage diseases
Autosomal recessive
82
What is the main issue with glycogen storage diseases
Impaired glycogen metabolism
83
What are the three glycogen storage diseases talked about in class
``` von Gierke disease (hepatic disease) McArdle disease (myopathic type) Pompe disease (type II glycogenosis) ```
84
What type of glycogen storage disease is associated with glucose-6-Phosphate deficiency
von Gierke disease (hepatic type)
85
What does von gierke disease cause
Hepatomegaly Hypoglycemia Death
86
What type of glycogen storage disease is associated with the live
von gierke disease
87
What glycogen storage disease is associated with muscle phosphorylase deficiency
McArdle disease
88
What glycogen storage disease causes a decrease in muscle glycolosis which leads to weakness/cramps
McArdle disease
89
What glycogen storage disease is associated with lysosomal acid maltase deficiency
Pompe disease
90
What organ in pompe disease found
Every organ
91
What can pompe disease cause in children
Lethal cardiomegaly
92
When does von gierke disease start to show
Neonatal
93
When does McArdle disease start to show
Young adult
94
What defines complex multigenic disorders
they have 2 or more altered genes causing an additive effect
95
What are the features of complex multigenic disorders
more altered genes = more risk Identical twins share risk First degree relatives have similar risk Expression in first offspring, increase risk in siblings
96
What are cytogenic disorders
Altered chromosomes (structural, numerical)
97
What is the normal Haploid/diploid number in humans
``` Hap = 23 dip = 46 ```
98
what are the different categories of cytogenic disorders
Loss of material Gain of material Sex chromosome abnormalities Spontaneous alterations
99
What are the autosomal cytogenic disorders discussed in class
Trisomy 21 Trisomy 18 Trisomy 13 Cri du chat syndrome
100
What is the most common autosomal cytogenic disorder
Trisomy 21
101
What increases the risk of having a child that has trisomy 21
increase in maternal age
102
What are some features of trisomy 21
``` Flat faces Epicanthic folds cardiac malformations lung infections alzheimers atlanto-axial instability (30%) ```
103
What is the translocation that causes 4% of Trisomy 21
Robertsonian translocation (mom has 2 21's but one is attached to another chromosome)
104
What is 22q11.2 deletion syndrome
Deletion of chromosome 22, long are, band 11.2
105
What does 22q11.2 deletion cause
``` Facial dysmorphism Cardiac defects cleft palate cognitive delays Hypoplasia ```
106
What are the two 22q11.2 diseases discussed in class
DiGeorge syndrome | Velocardiofacial syndrome
107
What chromosome do Allosomal cytogenetic disorders deal with
Chromosome 23: X, Y
108
What are the allosomal cytogenic disorders discussed in class
Klienfelter syndrome | Turner syndrome
109
What is chromosomally wrong in klinefelter syndrome
More than 2X, more than one Y XXY
110
What causes klienfelter syndrome
Non disjunction during meisosis
111
What does klienfelter syndrome cause
``` Male hypogonadism + sterility Testicular atrophy Gynecomastia Really long legs Mild congitive impairment ```
112
What increases the risk of having a child with klienfelter syndrome
Increase in maternal age | irradiation
113
What chromosomal anomoly is associated with Turner syndrome
Absence of 1 x chromosome (45, X) Or loss of short arm of X
114
What are the characteristics of Turner syndrome
Short stature Amenorrhea (streak ovaries) Neck webbing Androgynous female appearance
115
What are hallmark examples of single gene disorders with atypical inheritance
Triplet-repeat mutations Mutations in mitochondrial genes Genomic imprinting (epigenetic silencing)
116
What type of atypical inheritance disorder is found in Fragile X syndrome
Triplet-repeat mutation (FMR1 mutation) Repeats of CGG
117
What sex does fragile x syndrome affect
Males
118
What are characteristics associated with Fragile X syndrome
``` Familial Mental retardation Macroochildism Long face Large mandible Large ears flat feet hypotonia ```
119
What is unique with fragile X syndrome
As it gets passed down it gets progressively worse
120
What do mutated mitochondrial genes often cause
Defective oxidative phosphorylation
121
What disease is a hallmark of Mutations in mitochondrial genes
Leber hereditary Optic Neuropathy
122
What happens in Leber Hereditary Optic Neuropathy
Degeneration of retinal ganglia and CN 2 Causes loss of central vision
123
What two disease of genomic imprinting where discussed about in class
Angelman syndrome | Prader-wili syndrome
124
What is silenced in angelman syndrome
paternal imprinting and maternal deletion of 15q12
125
What is associated with angelman syndrome
Mental retardation Seizures ataxia inappropriate laughter
126
What is silenced in Prader-wili syndrome
Maternal imprinting and paternal deletion of 15q12
127
What is associated with prader-wili syndrome
``` mental retardation hypotonia obesity short stature small hands/feet hypogonadism ```
128
What classifies pediatric diseases
Diseases that occur between birth to 17 years old
129
What is unique about childhood pathologies
May or may not be genetic origin
130
What are congenital anomalies
Structural defects present at birth
131
What are the two type of perinatal infections
Transcervical | Transplacental
132
What is characteristic of Transcervical perinatal infections
They ascends from vagina to cervix
133
What are some potential transcervical perinatal infections
Pneumonia Meningitis sepsis Bacterial infections (strep, honorrhoeae, chlamydia)
134
What is characteristic of Transplacental perinatal infections
Hematogenous spread from compounds that cross the placenta (MC) or transfusion at birth
135
What is the acronym that is associated with Transplacental perinatal infections
TORCH
136
What is T.O.R.C.H
``` Toxoplasma gondii Rubella virus CMV HSV Other (HIV, HBV, syphilis) ```
137
What classifies a child as premature
less than 37 weeks gestations
138
What is the most common cause of neonatal mortality
Prematurity
139
What is a cause of Small-for-gestation-age (SGA)
``` Chromosomal disorders Fetal infection placental factors pre-exlampsia alcohol smoking maternal malnutrition ```
140
What is the gestational terminology for pre-term
less than 37 weeks
141
What is the gestational terminology for early term
37-38 weeks
142
What is the gestational terminology for full term
39-40 weeks
143
What is the gestational terminology for Late term
41 weeks
144
What is the gestational terminology for post-term
42 weeks
145
What causes Resptiratory distress syndrom in premature children
Immatur lungs, too little surfactant production
146
What does the first breath cause production of
Type II pneumocytes
147
What happens then there is not enough lung surfactant
difficulty inflating alveoli = atelectasis
148
What percentage of infants born
60%
149
What puts an infant at higher risk of RDS
maternal diabetes males cesarean section pre mature birth
150
How is RDS treated
Steroids and Surfactant | Artificial ventilation
151
What happens in Necrotizing enterocolitis
Necrosis of intestine ulcerations of intestine congestion of intestine abdominal distension
152
What is SIDS
sudden death of infant during sleep
153
When is SIDS most likely to happen
month 2-4
154
What are some risks of SIDS
``` Prone sleeping soft bedding bed co-sharing thermal stress maternal smoking being male ```
155
What caused a decrease of SIDS by 50%
the back to sleep campaign
156
What is Fetal hydrops
Accumulation of edema during gestation
157
What are the two types of Fetal hydrops
Hydrops fetalis | Cystic hygroma
158
Which form of cystic hydrops is lethal
Hydrops fetalis
159
What are some of the causes of Fetal hydrops
Immune hydrops: antibody induced | Nonimmue: chromosomal
160
What is the second most common death of 4-14 year olds
Pediatric tumors
161
What are the benign pediatric tumors discussed in class
Hemangioma Lymphangiomas sacrococcygeal teratomas
162
What pediatric tumor is of the capillaries, normally self resolves around age 7
Hemangioma
163
What is the benign pediatric tumor of the lymphatics of the neck, trunk and axilla
Lymphangiomas
164
What is the most common germ cell tumor of childhood
Sacrococcygeal teratoma
165
What percentage of sacrococcygeal teratoms are benign
75%
166
What are the most common tissues for pediatric malignancy
Hematopoietic Neuronal Soft tissue
167
How do pediatric malignancies differ from adult malignancies
Spontaneously regress primative cell characteristcs Teratogens, genetic abnormalities
168
What are 3 unique pediatric cancers
Neuroblastom Retinoblastom Wilms tumor
169
What type of tumor is a malignancy of neural crest-derived cells
Neuroblastoma
170
What pediatric malignant tumor encompasses 50% of infantile Cancer
Neuroblastoma
171
What age gives a better prognosis of neuroblastoma
younger than 18 months have the best prognosis
172
What is Homer-wright pseudo-rosettes
Neuroblastoma turmor cell that surrounds a neutrophil
173
What percentage of neuroblastoma are sporadic
98%
174
How do neuroblastomas metastasize
Lymphoid | hematopoietic
175
What is characteristic or infants with neuroblastoma that are less than 2 years old
Protuberant abdomen Fever cachexia METS (blueberry muffin baby)
176
What Metastic tumor in infants is a cancer of the posterior retina
Retinoblastoma
177
What are the two types of retinoblastoms and their percentage of occurance
Genetic 40% | Sporadic 60%
178
What gene is mutated in retinoblastoma
RB1
179
What type of retinoblastoma is multiple and bilateral
Genetic
180
What type of retinoblastoma is isolated and unilateral tumor
Sporadic
181
How does a retinoblastoma appear on the retina
Nodular mass on the posterior retina | Flexner-wintersteiner rosettes
182
What is Flexner-Wintersteiner Rosettes
Cuboidal cells surrounding an empty lumen
183
What type of cancer is a wilms tumor
Renal cancer | nephroblastoma
184
What age is a wilms tumor most common
age 2-5 years
185
How does a wilms tumor appear as
A large palpable mass in the abdomen
186
What syndromes are associated with wilms tumor
WAGR syndrom Denys-Drash syndrome Beckwith-Wiedemann syndrome
187
What is WAGR syndrome
wilms tumor Aniridia Genitourinary mental retardation
188
What is the treatment is Wilms tumor
Nephrectomy | Chemotherapy
189
What are prenatal indications for genetic ananlysis
any Increase risk of chromosomal abnormality maternal age prevoius chromosomal abnormalities carrier of X-linked condition
190
How are prenatal genetics analysied
Amniocentesis Umbilical cord blood biopsy
191
What are postnatal indications for genetic analysis
Multiple convenital anomalies Mental retardation infertile offspring
192
How are postnatal genetics anaylsied
Peripheral blood lymphcytes

Pathology 1 (6 decks)

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