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ABGC > General genetics / metabolic 5 > Flashcards

General genetics / metabolic 5 Flashcards

1
Q

Androgen insensitivity syndrome
features
gene(s)
inheritance

A
  • feminization of external genitalia
  • AR gene
  • XL inheritance
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2
Q

Thanatophoric dysplasia
features
gene(s)
inheritance

A
  • perinatal lethal short-limb dwarfism syndrome
  • FGFR3 gene
  • AD inheritance
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3
Q

Hirschsprung disease
features
gene(s)
inheritance

A
  • complete absence of neuronal ganglion cells from a portion of the intestinal tract; leads to constipation
  • varying underlying causes / inheritance patterns (T21, deletions, Bardet-Biedl, familial dysautonomia, Mowat-Wilson, MEN2, NF1, SLOS, Waardenburg, others)
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4
Q

Cystic fibrosis
features
gene(s)
inheritance

A
  • effects epithelia of the respiratory tract, exocrine pancreas, intestine, male genital tract, hepatobiliary system, exocrine sweat glands
  • CFTR gene
  • AR inheritance
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5
Q

SMA
features
gene(s)
inheritance

A
  • progressive muscle weakness resulting from degeneration of the anterior horn cells; onset between gestation and young adulthood
  • SMN1 and SMN2 genes
  • AR inheritance
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6
Q

Klippel Trenaunay Weber
features
gene(s)
inheritance

A
  • capillary malformations associated w/hypertrophy of bones and soft tissues
  • unknown genes, sporadic
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7
Q

Simpson Golabi Behmel
features
gene(s)
inheritance

A
  • macrosomia, distinctive facies (coarse), ID
  • GPC3, GPC4 genes
  • XL inheritance
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8
Q

Facioscapulohumeral muscular dystrophy
features
gene(s)
inheritance

A
  • progressive muscle weakness presenting before age 20y
  • DUX4 gene in D4Z4 repeat region (most have 1-10 repeats; normal is 11-100)
  • AD inheritance
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9
Q

Myotonic dystrophy, type 1
features
gene(s)
inheritance

A
  • cataract, myotonia (sustained muscle contraction), cardiac conduction abnormalities
  • CTG trinucleotide repeat expansion in DMPK
  • AD inheritance
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10
Q

X-linked ichthyosis / steroid sulfatase deficiency
features
gene(s)
inheritance

A
  • dry and scaly skin, sparse hair, conical teeth
  • deletion of STS gene on Xp
  • XL inheritance
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11
Q

Bardet Biedl
features
gene(s)
inheritance

A
  • blindness by 15y; truncal obesity; postaxial polydactyly, LD/ID
  • 18 genes (many start with “BBS”)
  • AR inheritance
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12
Q

Kearns-Sayre
features
gene(s)
inheritance

A
  • various eye issues leading to ptosis and vision loss; cardiac conduction defects, ataxia
  • mtDNA deletions
  • rarely inherited
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13
Q

Spinocerebellar ataxia
features
gene(s)
inheritance

A
  • several types;
  • various; repeat expansions
  • various
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14
Q

Kennedy disease
features
gene(s)
inheritance

A
  • aka spinal and bulbar muscular atrophy
  • gradually progressive degeneration of lower motor neurons; fasciculations; mild androgen insensitivity
  • CAG repeat expansion in AR gene
  • XL inheritance
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15
Q

Friedreich’s ataxia
features
gene(s)
inheritance

A
  • slowly progressive ataxia w/onset in teens; dysarthria, muscle weakness, scoliosis, absent lower limb reflexes; some w/cardiomyopathy
  • FXN gene repeat expansion
  • AR inheritance
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16
Q

Alpha thalassemia

  • types
  • gene(s)
A
  • Hb Bart
  • hemoglobin H
  • HBA1 and HBA2 genes
17
Q

Hb Bart
features
gene(s)
inheritance

A
  • fetal onset of edema; severe anemia; various defects; death in neonatal period
  • all 4 alpha-globin alleles deleted or inactivated
  • AR inheritance
18
Q

Hemophilia A
features
gene(s)
inheritance

A
  • bruising; bleeding (muscle, joint, soft tissue)
  • F8 gene
  • XL inheritance
19
Q

Hemophilia B
features
gene(s)
inheritance

A
  • bruising; bleeding (muscle, joint, soft tissue)
  • F9 gene
  • XL inheritance
20
Q

Sickle cell anemia
features
gene(s)
inheritance

A
  • intermittent vaso-occlusive events and chronic hemolytic anemia; pain/swelling in hands/feet of children often earliest manifestation
  • HBB gene
  • AR inheritance
21
Q 
Von Willebrand
features
gene(s)
inheritance
incidence; penetrance
A
  • mucosal membrane hemorrhage (mouth, nose, uterus)
  • VWD gene
  • AD inheritance more common, some AR
  • incidence 1/100 w/very low penetrance
22
Q

SMA

subtypes

A
  • 0: prenatal onset / severe
  • 1: onset before 6m
  • 2: onset 6-12m
  • 3: onset in childhood after 1y; ability to walk 25 meters achieved
  • 4: adult onset
23
Q

SMN1 and SMN2 genes

  • types of mutations
  • copy number
  • -SMN1
  • -SMN2
A
  • almost identical; SMN 2 lacks the SMN1 exon 7
  • 95% of affecteds are homozygous for deletion or gene conversion (SMN1->2) as opposed to having one intragenic mutation
  • SMN1 copy number: 5-8% of people have 2 copies on a single chromosome
  • SMN2 copy number: 3+ copies correlated to milder phenotype
24
Q

DRPLA
features
gene(s)
inheritance

A
  • progressive brain disorder causing involuntary movements, mental/emotional problems; onset ~30y
  • ATN1 gene
  • AD inheritance
25
Q

Which factors are associated with hemophilia A and B?

A

Factor VIII: hemophilia A

Factor IX: hemophilia B

26
Q

Is hemophilia A or B more common?

A

A; but they are clinically indistinguishable

27
Q

Are there promoter mutations which cause hemophilia A or B?

A

only B

28
Q

HbH disease
features
gene(s)
inheritance

A
  • microcytic hypochromic hemolytic anemia; mild jaundice; bone changes; hepatosplenomegaly
  • deletion or dysfunction of 3 of 4 alpha-globin alleles
  • AR inheritance
29
Q

Beta-thalassemia
features
gene(s)
inheritance

A
  • microcytic hypochromic anemia; hepatosplenomegalia; FTT
  • HBB gene
  • AR inheritance
30
Q

Which thalassemia is referred to as “major/minor”

A

beta

31
Q

What is the genotype of an alpha-thalassemia silent carrier?

Trait?

A
  • a/aa

- a/-a OR –/aa

32
Q

What is the genotype for a beta-thalassemia trait?

A

-/B

33
Q

Does an alpha-thal trait have a low MCV?

Beta-thal trait?

A

yes, low for both

34
Q

When in life are alpha- and beta- chaines made?

A

alpha: in utero
beta: after birth

35
Q

Gamma chains

A

made through first year life to protect the infant

36
Q

Which thalassemia genotype is more common in the Southeast Asian population? Black Americans?

A
  • Asian: aa/–

- Black: -a/-a

37
Q

What does low MCV plus normal hemoglobin electrophoresis suggest?

A

alpha-thal trait

38
Q

What does low MCV and increased HbA2 suggest?

A

beta-thal trait

ABGC (34 decks)

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