Genetic

Definitions

• Monoploid or haploid: 13 chromosomes

• Diploid: 26 chromosomes (normal)

• Triploid: 39 chromosomes

• Aneuploidy: abnormal number of chromosomes, e.g. trisomy 21 has 47

• SNPs: substition of nucelotides, commonly found in introns (non coding DNA)

Commonly Inherited Diseases

'Structural conditions' tend to be AD

Autosomal Dominant

• Hereditary Spherocytosis

• Von Willebrand Disease (type 1)

• Familial Hypocalcuric hypercalcaemia

• Achondroplasia

• Peutz Jegher's Syndrome

• Essential Tremor

'Metabolic conditions' tend to be AR

Sickle Cell Disease Autosomal Recessive

Cystic Fibrosis Autosomal Recessive

Freidreich's ataxia Autosomal Recessive

Fragile X X Linked Dominant

Haemophilia X Linked Recessive

Kallman's Syndrome X Linked Recessive

Fabry Disease X Linked Recessive

Written 2024