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Pathology 1 > Chapter 6 > Flashcards

Chapter 6 Flashcards

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
Q

What is a sex linked single gene mutation

A

X-linked disorders

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26
Q

What is the chance that the daughter and son have a bad X gene if mom has a bad X gene

A

50%

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27
Q

What is the chance that a daughter will get a mutated X if dad has a mutated X

A

100%

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28
Q

What type of single gene mutation is Marfan syndrome

A

Autosomal dominanat

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29
Q

What gene is mutated in marfan synrome

A

Fibrillin gene

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30
Q

What are some skeletal defects in marfan syndrom

A 
Slender habitus
Scoliosis
Long limbs
High arched palate
Hypermobility
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31
Q

What potential fatal problem is associated with marfan syndrome

A

Ruptured aorta

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32
Q

What is the main problem with EHlers-Danlos syndrome

A

Defective collagen synthesis

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33
Q

What is characteristic of Ehlers-Danlos syndrome

A

Hyperextendsible skin

Hypermobile joints

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34
Q

What are problems associated with Ehlers-Danlos syndrome

A

Joint problems
poor healing
pneumothorax

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35
Q

What type single gene mutation is associated with Familial hypercholesterolemia

A

Autosomal dominant

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36
Q

What is the problem with Familial hypercholesterolemia

A

Impaired LDL transport + Catabolism

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37
Q

What increases the severity for Familial hypercholesterolemia

A

Whether the gene is Homozygous or heterozygous

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38
Q

What is associated with adult onset (heterozygous) of Familial hypercholesterolemia

A

Xanthomas (cholesterol deposit on tendon)

Premature atherosclerosis

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39
Q

What is associated with childhood (homozygous) onset of Familial hypercholesterolemia

A

Xanthomas

CAD (Lethal)

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40
Q

What type of single gene mutation is Cystic fibrosis

A

Autosomal recessive

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41
Q

What gene is mutated in cystic fibrosis

A

CFTR gene

Causes a decrease in chloride ion transport

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42
Q

What is cystic fibrosis associated with

A

Chronic pulmonary infections
Pancreatic insufficiency
Male infertility (absent vas deferens)
Very viscous mucus

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43
Q

What type of single gene mutation is Phenylketonuria (PKU)

A

Autosomal recessive

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44
Q

What is the main issue with PKU

A

can’t metabolize phenylalanine

it builds up and is a neurotoxin

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45
Q

What is associated with PKU

A

Mental retardation
Musty urine and sweat
Failed tyrosine production

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46
Q

What is the treatment for PKU

A

restrict phenyalanine

Supplement tyrosine

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47
Q

What is the issue with maternal PKU

A

Phenyalanine is teratogen (can cross placenta)

Causes problems with fetus

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48
Q

What type of single gene mutation is associated with Galactosemia

A

Autosomal recessive

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49
Q

What is the mutated gene in Galactosemia and what does it cause

A

Gene: GALT

Abnormal galactose metabolism

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50
Q

What happens to galactose in Galactosemia

A

galactose-1-phosphate accumulates

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51
Q

What happens when galactose-1-phosphate accumulates

A

it is toxic to CNE neurons, liver, lens of eye and kidneys

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52
Q

How long does an infant last that has Galactosemia?

A

no more than a few weeks

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53
Q

how do you treat an infant with galactosemia

A

Restrict galactose intake (from lactose)

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54
Q

What type of single gene mutation is associated with lysosomal storage disaeses

A

Autosomal recessive

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55
Q

What is a common problem with a lysosomal storage disease

A

There is a lack of lysosomal enzymes causing metabolites to accumulate and are stored within lysosomes

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56
Q

What are the 4 types of lysosomal storage diseases discussed in class

A 
Tay-sachs disease
Niemann-pick disease type A & B
Niemann-pick disease type C
Gaucher disease
Mucopolysaccharidosis
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57
Q

What is the problem with Tay-sachs disease

A

The inability to metabolize Gm2 Gangliosides

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58
Q

What does tay-sachs disease cause

A

Mental retardation
Blindness
morot weakness
Death by age 2-3

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59
Q

What group is at a higher risk of tay-sachs disease

A

Ashkenazi jews

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60
Q

What is the problem with Niemann-pick disease type A and B

A

Accumulation of sphingomyelin in the liver, neurons, spleen, marrow, lymph nodes and lungs

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61
Q

What is different about Niemann-pick disease type C

A

Defective lipid transport

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62
Q

What type of niemann-pick disease is most severe

A

Type A (death by 3 years)

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63
Q

What type of niemann-pick is most common

A

Type C

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64
Q

What type of niemann-pick disease causes no neuo damage

A

Type B

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65
Q

What are the features of Niemann-pick type C

A 
Childhood onset
Ataxia
Dystonia
Dysarthria
Variable prognosis
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66
Q

What is mutated in Gaucher disease

A

Glucocerebrosidase gene

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67
Q

What happens in gaucher disease

A

Glucocerebroside accumulates causing an enlargment of phagocytes

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68
Q

how many types of Gaucher disease is there

A

3

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69
Q

what is the most common type of gaucher disease

A

Type 1

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70
Q

What group of people is type 1 gaucher disease most common in

A

Ashkenazi jews

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71
Q

How do you treat gaucher disease

A

Enzyme replacement therapy

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72
Q

What is the main problem with Mucopolysaccharidosis

A

There is a deficiency in ECM breakdown enzymes

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73
Q

What happens to mucopolysaccharides in mucopolysaccharidosis?

A

Mucopolysaccharides accumulate in lysosomes

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74
Q

What skeletal deformation is strongly associated with mucopolysaccharidosis

A

Gargoylism

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75
Q

What are the two types of mucopolysaccharidosis discussed in class

A 
Hurler syndrome (type 1)
Hunter syndrome (type 2)
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76
Q

What type of single gene mutation causes Hurler syndrome

A

Autosomal recessive

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77
Q

What type of single gene mutation causes Hunter syndrome

A

X-linked

78
Q

What type of mucopolysaccharidosis is associated with corneal clouding, skeletal abnormalities, mental retardation

A

Hurler syndrome

79
Q

What type of mucopolysaccharidosis is mild, has no corneal clouding and is slow to progress

A

Hunter syndrome

80
Q

What is Glycogenoses

A

Glycogen storage diseases

81
Q

What type of single gene mutation is associated with Glycogen storage diseases

A

Autosomal recessive

82
Q

What is the main issue with glycogen storage diseases

A

Impaired glycogen metabolism

83
Q

What are the three glycogen storage diseases talked about in class

A 
von Gierke disease (hepatic disease)
McArdle disease (myopathic type)
Pompe disease (type II glycogenosis)
84
Q

What type of glycogen storage disease is associated with glucose-6-Phosphate deficiency

A

von Gierke disease (hepatic type)

85
Q

What does von gierke disease cause

A

Hepatomegaly
Hypoglycemia
Death

86
Q

What type of glycogen storage disease is associated with the live

A

von gierke disease

87
Q

What glycogen storage disease is associated with muscle phosphorylase deficiency

A

McArdle disease

88
Q

What glycogen storage disease causes a decrease in muscle glycolosis which leads to weakness/cramps

A

McArdle disease

89
Q

What glycogen storage disease is associated with lysosomal acid maltase deficiency

A

Pompe disease

90
Q

What organ in pompe disease found

A

Every organ

91
Q

What can pompe disease cause in children

A

Lethal cardiomegaly

92
Q

When does von gierke disease start to show

A

Neonatal

93
Q

When does McArdle disease start to show

A

Young adult

94
Q

What defines complex multigenic disorders

A

they have 2 or more altered genes causing an additive effect

95
Q

What are the features of complex multigenic disorders

A

more altered genes = more risk
Identical twins share risk
First degree relatives have similar risk
Expression in first offspring, increase risk in siblings

96
Q

What are cytogenic disorders

A

Altered chromosomes (structural, numerical)

97
Q

What is the normal Haploid/diploid number in humans

A 
Hap = 23
dip = 46
98
Q

what are the different categories of cytogenic disorders

A

Loss of material
Gain of material
Sex chromosome abnormalities
Spontaneous alterations

99
Q

What are the autosomal cytogenic disorders discussed in class

A

Trisomy 21
Trisomy 18
Trisomy 13
Cri du chat syndrome

100
Q

What is the most common autosomal cytogenic disorder

A

Trisomy 21

101
Q

What increases the risk of having a child that has trisomy 21

A

increase in maternal age

102
Q

What are some features of trisomy 21

A 
Flat faces
Epicanthic folds
cardiac malformations
lung infections
alzheimers
atlanto-axial instability (30%)
103
Q

What is the translocation that causes 4% of Trisomy 21

A

Robertsonian translocation (mom has 2 21’s but one is attached to another chromosome)

104
Q

What is 22q11.2 deletion syndrome

A

Deletion of chromosome 22, long are, band 11.2

105
Q

What does 22q11.2 deletion cause

A 
Facial dysmorphism
Cardiac defects
cleft palate
cognitive delays
Hypoplasia
106
Q

What are the two 22q11.2 diseases discussed in class

A

DiGeorge syndrome

Velocardiofacial syndrome

107
Q

What chromosome do Allosomal cytogenetic disorders deal with

A

Chromosome 23: X, Y

108
Q

What are the allosomal cytogenic disorders discussed in class

A

Klienfelter syndrome

Turner syndrome

109
Q

What is chromosomally wrong in klinefelter syndrome

A

More than 2X, more than one Y

XXY

110
Q

What causes klienfelter syndrome

A

Non disjunction during meisosis

111
Q

What does klienfelter syndrome cause

A 
Male hypogonadism + sterility
Testicular atrophy
Gynecomastia
Really long legs
Mild congitive impairment
112
Q

What increases the risk of having a child with klienfelter syndrome

A

Increase in maternal age

irradiation

113
Q

What chromosomal anomoly is associated with Turner syndrome

A

Absence of 1 x chromosome (45, X)

Or loss of short arm of X

114
Q

What are the characteristics of Turner syndrome

A

Short stature
Amenorrhea (streak ovaries)
Neck webbing
Androgynous female appearance

115
Q

What are hallmark examples of single gene disorders with atypical inheritance

A

Triplet-repeat mutations
Mutations in mitochondrial genes
Genomic imprinting (epigenetic silencing)

116
Q

What type of atypical inheritance disorder is found in Fragile X syndrome

A

Triplet-repeat mutation (FMR1 mutation)

Repeats of CGG

117
Q

What sex does fragile x syndrome affect

A

Males

118
Q

What are characteristics associated with Fragile X syndrome

A 
Familial Mental retardation
Macroochildism
Long face
Large mandible
Large ears
flat feet
hypotonia
119
Q

What is unique with fragile X syndrome

A

As it gets passed down it gets progressively worse

120
Q

What do mutated mitochondrial genes often cause

A

Defective oxidative phosphorylation

121
Q

What disease is a hallmark of Mutations in mitochondrial genes

A

Leber hereditary Optic Neuropathy

122
Q

What happens in Leber Hereditary Optic Neuropathy

A

Degeneration of retinal ganglia and CN 2

Causes loss of central vision

123
Q

What two disease of genomic imprinting where discussed about in class

A

Angelman syndrome

Prader-wili syndrome

124
Q

What is silenced in angelman syndrome

A

paternal imprinting and maternal deletion of 15q12

125
Q

What is associated with angelman syndrome

A

Mental retardation
Seizures
ataxia
inappropriate laughter

126
Q

What is silenced in Prader-wili syndrome

A

Maternal imprinting and paternal deletion of 15q12

127
Q

What is associated with prader-wili syndrome

A 
mental retardation
hypotonia
obesity
short stature
small hands/feet
hypogonadism
128
Q

What classifies pediatric diseases

A

Diseases that occur between birth to 17 years old

129
Q

What is unique about childhood pathologies

A

May or may not be genetic origin

130
Q

What are congenital anomalies

A

Structural defects present at birth

131
Q

What are the two type of perinatal infections

A

Transcervical

Transplacental

132
Q

What is characteristic of Transcervical perinatal infections

A

They ascends from vagina to cervix

133
Q

What are some potential transcervical perinatal infections

A

Pneumonia
Meningitis
sepsis
Bacterial infections (strep, honorrhoeae, chlamydia)

134
Q

What is characteristic of Transplacental perinatal infections

A

Hematogenous spread from compounds that cross the placenta (MC) or transfusion at birth

135
Q

What is the acronym that is associated with Transplacental perinatal infections

A

TORCH

136
Q

What is T.O.R.C.H

A 
Toxoplasma gondii
Rubella virus
CMV
HSV
Other (HIV, HBV, syphilis)
137
Q

What classifies a child as premature

A

less than 37 weeks gestations

138
Q

What is the most common cause of neonatal mortality

A

Prematurity

139
Q

What is a cause of Small-for-gestation-age (SGA)

A 
Chromosomal disorders
Fetal infection
placental factors
pre-exlampsia
alcohol
smoking
maternal malnutrition
140
Q

What is the gestational terminology for pre-term

A

less than 37 weeks

141
Q

What is the gestational terminology for early term

A

37-38 weeks

142
Q

What is the gestational terminology for full term

A

39-40 weeks

143
Q

What is the gestational terminology for Late term

A

41 weeks

144
Q

What is the gestational terminology for post-term

A

42 weeks

145
Q

What causes Resptiratory distress syndrom in premature children

A

Immatur lungs, too little surfactant production

146
Q

What does the first breath cause production of

A

Type II pneumocytes

147
Q

What happens then there is not enough lung surfactant

A

difficulty inflating alveoli = atelectasis

148
Q

What percentage of infants born

A

60%

149
Q

What puts an infant at higher risk of RDS

A

maternal diabetes
males
cesarean section
pre mature birth

150
Q

How is RDS treated

A

Steroids and Surfactant

Artificial ventilation

151
Q

What happens in Necrotizing enterocolitis

A

Necrosis of intestine
ulcerations of intestine
congestion of intestine
abdominal distension

152
Q

What is SIDS

A

sudden death of infant during sleep

153
Q

When is SIDS most likely to happen

A

month 2-4

154
Q

What are some risks of SIDS

A 
Prone sleeping
soft bedding
bed co-sharing
thermal stress
maternal smoking
being male
155
Q

What caused a decrease of SIDS by 50%

A

the back to sleep campaign

156
Q

What is Fetal hydrops

A

Accumulation of edema during gestation

157
Q

What are the two types of Fetal hydrops

A

Hydrops fetalis

Cystic hygroma

158
Q

Which form of cystic hydrops is lethal

A

Hydrops fetalis

159
Q

What are some of the causes of Fetal hydrops

A

Immune hydrops: antibody induced

Nonimmue: chromosomal

160
Q

What is the second most common death of 4-14 year olds

A

Pediatric tumors

161
Q

What are the benign pediatric tumors discussed in class

A

Hemangioma
Lymphangiomas
sacrococcygeal teratomas

162
Q

What pediatric tumor is of the capillaries, normally self resolves around age 7

A

Hemangioma

163
Q

What is the benign pediatric tumor of the lymphatics of the neck, trunk and axilla

A

Lymphangiomas

164
Q

What is the most common germ cell tumor of childhood

A

Sacrococcygeal teratoma

165
Q

What percentage of sacrococcygeal teratoms are benign

A

75%

166
Q

What are the most common tissues for pediatric malignancy

A

Hematopoietic
Neuronal
Soft tissue

167
Q

How do pediatric malignancies differ from adult malignancies

A

Spontaneously regress
primative cell characteristcs
Teratogens, genetic abnormalities

168
Q

What are 3 unique pediatric cancers

A

Neuroblastom
Retinoblastom
Wilms tumor

169
Q

What type of tumor is a malignancy of neural crest-derived cells

A

Neuroblastoma

170
Q

What pediatric malignant tumor encompasses 50% of infantile Cancer

A

Neuroblastoma

171
Q

What age gives a better prognosis of neuroblastoma

A

younger than 18 months have the best prognosis

172
Q

What is Homer-wright pseudo-rosettes

A

Neuroblastoma turmor cell that surrounds a neutrophil

173
Q

What percentage of neuroblastoma are sporadic

A

98%

174
Q

How do neuroblastomas metastasize

A

Lymphoid

hematopoietic

175
Q

What is characteristic or infants with neuroblastoma that are less than 2 years old

A

Protuberant abdomen
Fever
cachexia
METS (blueberry muffin baby)

176
Q

What Metastic tumor in infants is a cancer of the posterior retina

A

Retinoblastoma

177
Q

What are the two types of retinoblastoms and their percentage of occurance

A

Genetic 40%

Sporadic 60%

178
Q

What gene is mutated in retinoblastoma

A

RB1

179
Q

What type of retinoblastoma is multiple and bilateral

A

Genetic

180
Q

What type of retinoblastoma is isolated and unilateral tumor

A

Sporadic

181
Q

How does a retinoblastoma appear on the retina

A

Nodular mass on the posterior retina

Flexner-wintersteiner rosettes

182
Q

What is Flexner-Wintersteiner Rosettes

A

Cuboidal cells surrounding an empty lumen

183
Q

What type of cancer is a wilms tumor

A

Renal cancer

nephroblastoma

184
Q

What age is a wilms tumor most common

A

age 2-5 years

185
Q

How does a wilms tumor appear as

A

A large palpable mass in the abdomen

186
Q

What syndromes are associated with wilms tumor

A

WAGR syndrom
Denys-Drash syndrome
Beckwith-Wiedemann syndrome

187
Q

What is WAGR syndrome

A

wilms tumor
Aniridia
Genitourinary
mental retardation

188
Q

What is the treatment is Wilms tumor

A

Nephrectomy

Chemotherapy

189
Q

What are prenatal indications for genetic ananlysis

A

any Increase risk of chromosomal abnormality

maternal age
prevoius chromosomal abnormalities
carrier of X-linked condition

190
Q

How are prenatal genetics analysied

A

Amniocentesis
Umbilical cord blood
biopsy

191
Q

What are postnatal indications for genetic analysis

A

Multiple convenital anomalies
Mental retardation
infertile offspring

192
Q

How are postnatal genetics anaylsied

A

Peripheral blood lymphcytes

Pathology 1 (6 decks)

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