Definitions:
- Gene: a region of DNA that encodes protein
- Genome: complete set of gene of an organism and the intervening DNA sequence
- Locus: site of gene on a chromosome
- Chromosome: Self-replicating genetic structure of cells containing the cellular DNA that bearsin its nucleotide sequence the linear array of genes. Chromosomes are normally found in pairs; human beings typically have 23 pairs of chromosomes (22 autosome + 1 sex chromosome)
- Alleles: Alternative form of a gene found at the same locus on a chromosome; a single allele foreach locus is inherited separately from each parent
- Haploid: a single set of chromosomes (half the full set of genetic material), present in the gamete (egg or sperm) = (23).
- Codon: sequence of amino acid
- Karyotype: number and appearance of chromosomes in the nucleus, in human there are 44autosome + 2 sex chromosomes
- Autosome: any chromosome other than sex chromosome (22 pairs)
Autosomal RECESSIVE conditions are 'METABOLIC' - exceptions: inherited ataxias. Autosomal DOMINANT conditions are 'STRUCTURAL' - exception: hyperlipidemia type II,hypokalaemic periodic paralysis
Autosomal recessive - are usually metabolic except inherited ataxias
- Albinism
- Ataxia telangiectasia
- Charcot-Marie Tooth 4
- Haemochromatosis
- Cystic fibrosis
- Cystinosis
- Fanconi anaemia
- Familial Mediterranean fever
- Homocystinuria
- Sickle cell disease
- Thalassaemia
- Phenylketonuria
- Refsum's disease
- Lipid storage - Tay Sachs's, Gaucher's, Niemann Pick
- Mucopolysaccharidoses - Hurler's
- Retinitis pigmentosa (AR)
- Wilson's disease
Autosomal dominant are usually structural except Gilbert's and Familial Hypercholesterolaemia
- Achondroplasia
- Aniridia
- Tuberous sclerosis
- Charcot-Marie Tooth 1&2
- Myotonic dystrophy
- Gilbert's syndrome
- Hyperlipidaemia Type 2
- Ehlers Danlos syndrome
- Facioscapulohumeral dystrophy
- Familial hypercholesterolaemia
- Marfan syndrome
- MEN Syndromes
- Neurofibromatosis 1 and 2
- Polycystic kidney disease
- Retinitis Pigmentosa
- Retinoblastoma
- Tuberous sclerosis
- Von Willebrand's disease
X Linked recessive
Usually only affects males except for patients with Turners' syndrome who only have one X chromosome.
- G6PD Deficiency
- Mucopolysaccharidoses - Hunter's - BOYS
- Haemophilia A and B
- Fabry's disease
- Becker and Duchenne Muscular dystrophy
- Androgen insensitivity syndrome
- Becker muscular dystrophy
- Color blindness
- Duchenne muscular dystrophy
- Fabry's disease
- Hunter's disease
- Kallman Syndrome (X-Linke
- Lesch-Nyhan syndrome
- Nephrogenic diabetes insipid
- Ocular albinism
- Retinitis pigmentosa
- Severe combined immunodeficiency
- Wiskott-Aldrich syndrome
X Linked Dominant
- Vitamin D resistant rickets (affects males and females but males worse)
- Alport syndrome (85% XLD)
- Rett Syndrome