Genetics | Master Of Medicine

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:

  1. Hereditary Non Polyposis Colon Cancer.
  2. Hereditary Spherocytosis
  3. Hypertrophic cardiomyopathy
  4. Hereditary Hemorrhagic Telengectasia

Familial:

  1. Familial breast and Ovarian cancer
  2. Familial Adenomatous Polyposis
  3. Familial Hypercholesterolemia
  4. Familial Polyposis coli
  5. Familial melanoma
  6. Familial hypocalciuric hypercalcemia
  7. Familial parkinson’s disease

Hematological:

  1. Von Willebrand’s Disease
  2. Factor V Leiden

Connective tissue:

  1. Marfans syndrome
  2. Neurofibromatosis type I and II
  3. Achondroplasia
  4. Osteogenesis Imperfecta
  1. Wilm’s tumour
  2. Long QT syndrome
  3. Basal cell nevus syndrome
  4. Retinoblastoma
  5. Huntington’s diseaese
  6. Maturity onset Diabetes Insipidus
  7. Adult PCKD
  8. Maturity onset diabetes of young
  9. Primary pulmonary hypertension

Chromosomal anomalies

Loss of chromosome 22- Meningioma

Inversion 16-AML M4

5p deletion- Cri du chat

trisomy 16-Patau

Trisomy 18-Edwards

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