Modes of inheritance Flashcards Preview

Y4 Important to learn > Modes of inheritance > Flashcards

Flashcards in Modes of inheritance Deck (26)
Loading flashcards...
1

Mode of inheritance of sickle cell anaemia

Autosomal recessive 

 

  • defective globin genes
  • when exposed to hypoxia/acidaemia → sickling of RBCs → painful crisis

2

Mode of inheritance of cystic fibrosis

Autosomal recessive

3

Mode of inheritance of congenital adrenal hyperplasia

Autosomal Recessive

4

Mode of inheritance of oculocutaneous albinism

Autosomal recessive 

5

Mode of inheritance of thalassemia 

Autosomal recessive 

6

Mode of inheritance of Tay-Sachs disease

Autosomal recessive

 

  • destruction of the nerve cells in the brain and spinal cord
  • commonly becomes apparent when a baby is 3-6 months and loses ability to turn over, sit, crawl etc
  • other: seizures, hearing loss, inability to move
  • enzymatic defect (beta hexosaminidase A) →toxic build up of GM2 gangloside → destruction of nerve cells
  • death often occurs in early childhood

 

7

Mode of inheritance of galactosaemia

Autosomal Recessive

8

Mode of inheritance of Prader-Willi

Uniparental disomy

(deletion mutation)

 

  • 'imprinting' → gene required for normal function comes from only one parent
  • if this gene is delated or both genes come from the other parent (uniparental disomy) → syndrome will occur
  • in Prader-Willi only parental copy of the gene is active (chromosome 15) → therefore either a parental gene is deleted or both copies come from mum 

 

Features:

  • hypotonic and difficult to feed as infants
  • learning disability and obesity later on in life

 

 

9

Mode of inheritance of Angelman's syndrome

Uniparental disomy 

 
  • 'imprinting' → gene required for normal function comes from only one parent
  • if this gene is delated or both genes come from the other parent (uniparental disomy) → syndrome will occur

Features: 

- happy temper

- little speech

- severe learning disability 

- poor attention spam

- epilepsy

10

Mode of inheritance of Marfan's syndrome

Autosomal dominant

 

Features of Marfan's syndrome: 

- tall statute

- high arched palate

- mitral valve disease

- lens dislocation

- joint laxity 

- arachnodactyly

11

Mode of inheritance of achondrodysplasia

Autosomal dominant

 

  • achondrodysplasia = dwarfism 
  • abnormal conversion of cartilage into bone → epiphyseal growth of long bones is retarded 

12

Mode of inheritance of Huntington's disease

Autosomal Dominant

13

Mode of inheritance of neurofibromatosis

Autosomal dominant

14

Mode of inheritance of Noonan's syndrome

Autosomal dominant

 

normal development of various parts of the body is prevented →ususual characteristics:

  • abnormal facial features
  • heart defects
  • short stature
  • developmental delay
  • bleeding problems
  • bone malformations
  •  

15

Mode of inheritance of tuberous sclerosis

Autosomal dominant 

  • benign tumours develop across the body: brain, skin, kidney, heart, eyes and lungs
  • seizures, learning disability, developmental delay
  • skin abnormalities, kidneys abnormalities, lung disease

16

Mode of inheritance of Duchenne muscular dystrophy 

X-linked recessive 

  • 30% of causes → due to new mutation

17

Mode of inheritance of colour blindness 

X -linked recessive

18

Mode of inheritance of Fragile X syndrome

X - linked recessive

19

Mode of inheritance of Haemophilia A and B

X-linked recessive 

20

Mode of inheritance of glucose-6-phosphate dehydrogenase deficiency

X-linked recessive

21

Mode of inheritance of William's syndrome

Autosomal dominant (deletion mutation) 

 

  • microdeletion of chromosomal material at 7q11
  • features: short stature, elf-like face, hypercalcaemia as infant, supravalvular aortic stenosis, mild-moderate learning disabilities

22

Mode of inheritance of Cri-Du-Chat

Autosomal dominant (delation mutation)

23

Mode of inheritance of Di-George syndrome

Autosomal dominant (deletion mutation) 

24

Mode of inheritance of Vitamin D - resistant Rickets

X-linked dominant

25

Mode of inheritance of Leber Hereditary Optic Neuropathy 

Mitochondrial 

- inherited from the mother

26

Familiar hyperchlesterolaemia - mode of inheritance

Autosomal dominant 

 

  • mutation in a gene coding for LDL receptor