A Fact Sheet on Genetics
The Genetics FactSheet: A compilation of facts and figures about elements that figure in the study of medical genetics
The Genetics FactSheet
Techniques in Genetic Analysis
Types of Genetic Diseases
Chromosomal Disorders
Mitochondrial gene disorders
Single gene disorders
Miultifactorial disorders
Somatic cell genetic disorders
| Type of genetic disease | Diagnostic tests |
|---|---|
| Chromosomal disorders | Chromosomal analysis |
| Mitochondrial disorders | Pedigree Analysis Clinical Examination Biochemical tests and profiles DNA Analysis |
| Single gene disorders | Pedigree analysis Clinical examination Biochemical tests and profiles DNA Analysis Other investigations |
| Multifactorial disorders | Pedigree analysis Clinical examination Biochemical tests and profiles DNA Analysis Other investigations |
| Somatic Cell disorders | Histopathology DNA Analysis Chromosomal Analysis |
Supposedly, to-date, more than 5700 genetic disorders have been discovered and they affect about 1% of the world's population. A through listing of these is beyond the scope here, but the most common and relevant ones are mentioned here. The disorders mentioned below are single-gene disorders
Single Gene disorders
Achondroplasia
Acute intermittent porphyria
Adrenoleucodystrophy
Agammaglobinemia
Albinism
Alpha1-antitrypsin defiecency
Alpha-thalassemia
Alport Syndrome
Androgen insensitivity syndrome
Apert Syndrome
Ataxia Telangiectesia
Beta-thalassemia
Branchio-oto-renal syndrome
Color blindness
Congenital andrenal hyperplasia
Congenital spherocytosis
Cystic fibrosis
Cystinuria
Ehlers-Danlos Syndrome
Epidermolysisi bullosa
Fabry Disease
Fanconi Anaemia
Fragile X Syndrome
Friedrich's Ataxia
Galactosemia
Gaucher's Disease
Gilles de la Tourette Syndrome
Haemochromatosis
Haemophilia A
Haemophilia B
Hand-Heart Syndrome
Hepatolenticular Degeneration
Hereditary angio-edema
Hereditary haemorhagic telangiectesia
Hereditary thrombophilia
Huntington's Disease
Hypercholesterolemia
Hyperthermia. malignant
Hypertrophic obstructive cardiomyopathy
Incontinentia pigmenta
Intestinal polyposis
Leber optic atrophy
Lesch-Nyhan Syndrome
Marfan Syndrome
Meckel Syndrome
MCAD Deficiency
Mucopolysaccharidoses
Multiple endocrine neoplasia
Facioscapulohumeral muscular dystrophy
X-linked muscle dystrophy
Myotonic dystrophy
Neurofibromatosis I
Neurofibromatosis II
Noonan Syndrome
Osteogenesis imperfecta
Otosclerosis
Polycystic Kidney
Pseudoxanthoma elasticum
Retinitis Pigmentosa
Retinoblastoma
Rett Syndrome
SCID
Sickle cell disease
Spinal muscular dystrophy
Tay-sachs Disease
Thrombocytopenia-absent radius syndrome
Treacher-Collins Syndrome
Van der woude Syndrome
Von-Hippel-Lindau Syndrome
Von Willebrand Disease
Waardenburg Syndrome
Wilm's Syndrome
Xeroderma Pigmentosum
Zellweger Syndrome
List compiled from:-Essential Medical Genetics, J M Connor, M A Ferguson-Smith, Fourth Edition, Blackwell Science
Techniques in Genetic Analysis
Denaturation
Hybridization
Autoradiography
Polymerase Chain Reaction
Restriction Endonucleases
Blotting techniques
Vectors
Restriction mapping
DNA sequencing
Site-directed mutagenesis
Transgenic animals
DNA cloning
Protien truncation tests
DNA chips