Genetic Conditions and Patterns of inheritance Flashcards
Hereditary haemochromatosis
Autosomal recessive - HFE gene chromosome 6.
Excessive intestinal absorption of dietary iron resulting in a pathological increase in total body iron stores - build up in organs
Huntingdon’s disease
Autosomaldominant
Tay-Sachs disease
Autosomal recessive
Ehlers Danlos
Mostly autosomal dominant
Alport’s syndrome
Most (about 85%), the condition is inherited in an X-linked pattern
Sickle cell
Autosomal recessive
Haemophilia
X-linked
Duchenne muscular dystrophy
X-linked
Cystic fibrosis
Autosomal recessive
Thalassaemia
Autosomal recessive
Autosomal dominant polycystic kidney disease (ADPKD)
Autosomaldominant
Type 1 neurofibromatosis
Autosomaldominant
Tuberous sclerosis
Autosomaldominant
Turner syndrome
Only affects females and is caused by a missing or abnormal X chromosome
Klinefelter’s syndrome
Only affects males and is caused by an extra X chromosome
Patau’s syndrome
Extra copy of chromosome 13
Down’s syndrome
Extra copy of chromosome 21
Fragile X syndrome
X-linked
Edwards’ syndrome
Extra copy of chromosome 18
Alpha-1 antitrypsin deficiency (α1-antitrypsin deficiency, A1AD)
Autosomal co-dominant
Charcot-Marie-Tooth
Autosomal dominant inheritance is the most common (but autosomal recessive, and CMT X-linked (CMTX) forms exist
Production of abnormal myelin: unstable and spontaneously breaks down –> demyelination–> slowing of conduction velocity.
Schwann cells proliferate and form concentric arrays of remyelination. Repeated cycles of demyelination and remyelination result in an ‘onion bulb’ appearance.
