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G and H > Autosomal and X-linked disease (dom and rec) > Flashcards

Autosomal and X-linked disease (dom and rec) Flashcards

1
Q

What does sickle cell protect against and how?

A

Malaria

atypical can’t retain parasite

heterozygote = advantage

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2
Q

what does Phenylketonuria protect against?

A

fungal infections in fetuses

elevated Phenylalanine inactivates toxin

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3
Q

What does Cystic fibrosis protect against? How?

A

Diarrheal disease (cholera and typhoid fever)

fewer cl prevents water loss in intestinal cells.

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4
Q

What are the Autosomal dominant diseases?

A

(growth)
Achondroplasia and hypochondroplasia

(neurological Repeat disorders)
Huntington’s Disease
Myotonic dystrophy

(tumour supression)
retinoblastoma
neurofibromatosis

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5
Q

what are the autosomal recessive diseases?

A

(membrane)
Cystic fibrosis

(metabolic)
PKU

(Blood)
Sickle Cell
Haemachromotosis
thalassemia

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6
Q

Anticipation in Huntington’s disease

A

more common in Paternal transmission

from the instability of the CAG repeat in spermatogenesis

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7
Q

What are the X-linked recessive disorders?

A

Colour vision deficnecy

DM Dystrophy
Kennedy’s Disease

Haemophilia

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8
Q

What is a X-linked dominant disorder?

A

Hypophosphatemic Rickets

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9
Q

What is the affected gene and normal action of this gene for PKU?

what is the common mutation?

A

PAH gene

makes phenylalanine hydroxylase = process phenylalanine which is building block of proteins

Arg408Trp

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10
Q

Clinical features of PKU

A

Early
-vomiting
-irritability
-mousy odour to urine
-eczema like rash

Nervous
-hypotonia
-more active reflexes

untreated
-microcephaly
-widely spaced teeth
-prominent cheek and upper jaw bones

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11
Q

What is the affected gene and normal action of this gene for Thalassemia?

A

HBA 1 and 2 (a) and HBB (b)

incorrect synthesis of a or b globin chain

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12
Q

Types of a-thalassemia (symp and treatments)

A

silent
-1/4 mutated
-asymptomatic

minor
-2/4 mutated
-mild anaemia

HbH
3/4 mutated
-mild-mod anaemia
-enlarged spleen
-treated with transfusion

Hb Barts
-4/4 mutated
-severe anemia
-excess fluid build up
-not survive after birth

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13
Q

Types of b-thalassemia (symp and treatments)

A

Minor
1 of 2
- lifelong mild anemia

intermediate
2 of 2 mutated
- mild-mod anemia, slow growth
-splenectomy, blood transfusion and folic acid supplementation

major
-2 0f 2 affected
-life-threatening anemia in the first year
-jaundice
enlarged spleen and bone changes
-bone marrow transplant and regular transfusions

potential for gene therapy (haemoglobin switching)

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14
Q

What is the affected gene and normal action of this gene for Sickle Cell anemia?

what is the common mutation?

A

HbA gene: adult form of hemoglobin. mutation causes changed fibre formation and disorder RBC shape

HbA–> HbS

mutation
DNA: CTG –> CAG
RNA: GAG –> GUG

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15
Q

Clinical features of Sickle Cell

A

protection aganist malaria (Heterozygte advantage)

Intense pain in various parts of the body, often in the bones, joints, abdomen, or chest

Fatigue, shortness of breath, and paleness

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16
Q

What is the affected gene and normal action of this gene for Haemochromatosis?

what is the common mutation?

A

HFE gene

mutant= cannot bind to transferrin receptor that regulates Hepcidin (iron) = EXCESSIVE absorption of iron

mutation: p.cys282Tyr or p.His63ASP

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17
Q

Clinical features of Haemochromatosis

A

impacts the ability to absorb protein (stored in tissues instead)

joint pain
fatigue
bronze pigment
abdominal pain
decreased libido

often later diagnosis in females due to menstartion (iron removal downplays affect of high iron)

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18
Q

What is the affected gene and normal action of this gene for Cystic Fibrosis?

what is the common mutation?

A

CFTR

Chloride ion channel = maintains epithelial surface hydration, regulates luminal pH and has significant role in salt absorption

Phe508(del) = misfolded protein so protein does not migrate to cell membrane

19
Q

Clinical features of cystic fibrosis.

A

Pancreas
-blocked glands
-cyst formations
-decreased fat digestive enzymes

lungs
-mucus thicker = persistent cough and infections

reproductive ducts
-ductus deferens blocked= infertile

sweat glands
- no re-uptake of secreted salt = salty skin

20
Q

What is the affected gene and mechanical actionof mutated gene for Achondroplasia Hypochondroplasia?

A

FGFR3 = codes for a TKR responsible for signalling growth = limits bone formation

gain-of-function = (hypermorphic –> receptor constitutively active)
-inhibits chondrocytes and endochondral ossification

de novo - common cause of mutation

21
Q

what is the most common mutation for Hypochondroplasia and Achondroplasia respectively?

A

H= P.Asn540Lys
A= p.Gly380Arg

22
Q

Clinical features of achondroplasia

A
  • Abnormal bone growth → short stature with disproportionately short arms and legs
  • large head and prominent forehead
  • trident hands
  • delayed motor development
  • intelligence and life span normal
23
Q

Clinical features of Hypochondroplasia

A
  • normal birth weight and length
  • disproportion in limb trunk length (mild and easily overlooked during infancy)
  • typically present as toddlers or school-aged children with failure to grow
  • short stature with disproportionate limbs as they age
24
Q

Achondroplasia vs Hypochondroplasia

A

Severity: A= higher risk of complications

Stature: A= severe drawftism and DISproportionate stature, H= Proportionate stature and mild drawftism

head: A= large, H= normal

25
Q

Huntington’s disease clinical features

A

progressive motor disability featuring chorea

cognitive decline

mental distrubances

changes in personality/ depression

26
Q

What is the affected gene and normal action of this gene for Huntingtons?

what is the common mutation?

A

HTT

normal
-important in neurons and brain development before birth

mutation
Glutamine (CAG) repeats (over 40 for penetrance)

HTT protein aggregation in cells of caudate nucleus = cell atrophy and death

paternal transmission = anticipation

27
Q

What is the potential treatment option for autosomal dominant diseases?

A

siRNA interference

28
Q

What is the affected gene and normal action of this gene for Myotonic Dystrophy?

what is the common mutation?

A

DMPK gene = instructions for making myotonic dystrophy protein kinase = ole in muscle, heart, and brain cells

> 37 CTG repeats

can chow anticipation

29
Q

clinical features of myotonic dystrophy

A

Mild –> classic –> congenital

affects skeletal, eyes, endocrine and CNS

30
Q

What is the affected gene and normal action of this gene for Retinoblastoma?

what is the common mutation?

A

RB1 = tumour suppressor gene ( regulates G1 –> S phase)

loss-of-function mutation= uncontrolled cell division

2-hit hypothesis inheritance

31
Q

Clinical feature of Retinoblastoma

A

leukocoria (white pupils, clearer in photos)

32
Q

What is the affected gene and normal action of this gene for Neurofibromatosis?

what is the common mutation?

A

NF1 and NF2 gene

= partial/complete loss of function

33
Q

Clinical features of NF1 and NF2

A

NF1
-changes in pigmentation
-growth of tumpurs along nerves in skin/brain

NG2
-growth of noncancerous tumours on nervous system
-hearing loss and deafness
-vestibular schwanomas

34
Q

What is the affected gene and
what is the common mutation of colour blidness?

A

OPN1LW (yellow/orange)
OPN1MW (yellow/green)

caused by unequal crossing over

35
Q

What is the affected gene and normal action of this gene for Hypophosphate Rickets ?

A

PHEX gene = coordinates bone mineralisation and systemic phosphate homeostasis via directly regulating mineralising and producing FGFR3

36
Q

What is the affected gene and normal action of this gene for DM dystrophy?

what is the common mutation?

A

DMD gene = produces dystrophin - critical structural protein

37
Q

Clinical features of Hypophosphate Rickets

A

Weakened bones

curavture of spine

bowing of legs

38
Q

Clinical features of DM Dystrophy and treatment

A

skeletal and cardiac muscle affected

growers manoeuvre

exon skipping and reading through STOP codon

39
Q

What is the affected gene and normal action of this gene for Haemophilia?

A

F8 gene = A = clotting factor VIII
F9 gene = B = clotting factor IX

40
Q

What is the affected gene and normal action of this gene for kennedy’s Disease?

what is the common mutation?

A

AR Gene

CAG reaptes > 35 in AR protein

toxic gain-of-function
-protein aggregates are toxic to motor neurons = spinal and bulbar muscle atrophy

41
Q

Clinical features of Kennedy’s disease

A

progressive muscular atrophy disorder of motor neurons in the spinal cord

  • protein aggregates are toxic to motor neurons → spinal and bulbar muscle atrophy

in males:
infertility and gynecomastia

42
Q

Clinical features of haemophilia

A

Excessive bleeding: (most common symptom) - can occur after injuries, surgeries, or dental procedures.

Spontaneous bleeding: without any apparent injury.

Joint bleeding: Bleeding into the joints, particularly the knees, ankles, and elbows,

Muscle bleeding:

43
Q

What is the affected gene and normal action of this gene for leigh’s Disease?

A

MTATP6 = encodes ATP syntahse 6

deficicnces in ATP production and oxidattive phospphorylation

G and H (16 decks)

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