Category Archives: Genetics

Trinucleotide repeats in diseases

GAA– Friederichs AtAxia CAG- Spino Cerebellar Ataxia CAG- Kennedy’s disease(tip:Cennedy’s disease) CAG- Huntingtons disease(Chorea) CAG- DRPLA CTG- Myotonic dystrophy CGG- Fragile X syndrome

Chromosomes and disease loci

Rh gene over chromosome  1 HLA gene over chromosome 6 ABO blood group-chromosome 9 vWF -chromosome 12 Wilson disease atp7b gene on chromosome 13q Pendred and cystic fibrosis-7q Freidrich ataxia -9q13 Huntington disease-4 Tuberous sclerosis-9  and 16 Nail patella syndrome-9

Dominant and recessive

Autosomal Dominant diseases Frequently asked: Hereditary Non Polyposis Colon Cancer. Hereditary Spherocytosis Hypertrophic cardiomyopathy Hereditary Hemorrhagic Telengectasia Familial: Familial breast and Ovarian cancer Familial Adenomatous Polyposis Familial Hypercholesterolemia Familial Polyposis coli Familial melanoma Familial hypocalciuric hypercalcemia Familial parkinson’s disease Hematological: …

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Chromosomal anomalies

Loss of chromosome 22- Meningioma Inversion 16-AML M4 5p deletion- Cri du chat trisomy 16-Patau Trisomy 18-Edwards