Genetics

39 written of 39 topics · 13 entries (derived from exam corpus)

🔒 marks premium notes - see plans. Everything else here is free to read in full.

Concepts

Tier 1frequently tested

Mendelian inheritance and risk calculation

Autosomal recessive inheritance with incomplete penetrance - recurrence risk calculation1 Hardy-Weinberg equilibrium - carrier frequency and recurrence risk calculation1 Inheritance pattern of named genetic syndromes (Angelman, Rett, OI, imprinting disorders)1 Pedigree analysis - inheritance pattern recognition1 🔒 Punnett square / recurrence risk calculations for autosomal dominant conditions1

Molecular and therapeutic genetics

🔒 Alpha-1 antitrypsin deficiency - mechanism of liver vs lung disease (polymer accumulation vs protease-antiprotease imbalance)3 🔒 Assessing variant pathogenicity (conservation, population allele frequency, amino acid change type)🔒 Cystic fibrosis genetics (CFTR mutations, genotype-phenotype)5 🔒 Duchenne muscular dystrophy - mutation types and genetics1 🔒 Epigenetic regulation - DNA methylation (cytosine, CpG islands) and histone modification 🔒 Gene therapy principles and inheritance pattern implications 🔒 Genetic mutation terminology (aneuploidy, dynamic mutation, nonsense mutation, imprinting, uniparental disomy, heteroplasmy, linkage disequilibrium)1 🔒 Glycogen storage diseases - enzyme deficiencies and phenotypes (McArdle, Pompe, Cori, von Gierke)🔒 HFE gene mutations and hereditary haemochromatosis genotype-phenotype (C282Y, H63D)1 🔒 Lysosomal storage diseases - enzyme deficiencies (Fabry, Gaucher, Tay-Sachs, Krabbe)🔒 Molecular biology basics - DNA packaging (histones, nucleosomes) and translation machinery (tRNA, rRNA, ribosome)3 🔒 Molecular diagnostic techniques - PCR principles and applications 🔒 Somatic vs germline mutation - distinguishing features and propagation 🔒 Splice site mutations - effect on protein length/frame 🔒 Trinucleotide repeat disorders (myotonic dystrophy, Fragile X, Huntington's, Friedreich's ataxia) and genetic anticipation8

Haemoglobinopathies

🔒 Thalassaemia inheritance and genotype-phenotype correlation (alpha/beta)

Neurodegenerative genetics

🔒 Alzheimer's disease genetics (APP, PSEN1/2, chromosome 21, Down syndrome link)3

Cytogenetics

🔒 Cytogenetic abnormalities and prognosis in myelodysplastic syndrome/leukaemia1 🔒 Cytogenetic testing methods - karyotype, FISH, array CGH, indications3

Cancer genetics

🔒 Glioblastoma molecular markers (MGMT methylation, IDH1/2 mutation)2 🔒 Hereditary cancer susceptibility genes (BRCA1/2, TP53, PALB2, RET, VHL, MEN1)7 🔒 Knudson two-hit hypothesis (tumour suppressor gene inactivation)🔒 Lynch syndrome - mismatch repair deficiency and microsatellite instability1

Haematological genetics

🔒 Myeloid neoplasm driver mutations (JAK2, KIT, BCR-ABL, FLT3)1 🔒 Paroxysmal nocturnal haemoglobinuria (PNH) - mechanism (PIGA gene, CD55/CD59, complement-mediated haemolysis)5

Tier 2tested occasionally

Renal and structural genetics

🔒 Alport syndrome - genetics and associated features1

Complex and polygenic genetics

🔒 Autoimmune polyendocrine syndromes - genetics (AIRE, FOXP3)3 🔒 Complex/polygenic disease genetics - GWAS, twin studies, gene-environment interaction (HLA-B27/ERAP1, NOD2)1

Endocrine genetics

🔒 Maturity-onset diabetes of the young (MODY) - gene subtypes and phenotypes

X-linked genetics

🔒 X-inactivation (Lyonisation) and X-linked disease expression in females

Cardiac genetics

🔒 Connective tissue disorders and aortic dissection risk (vascular Ehlers-Danlos, Marfan, Loeys-Dietz)🔒 Hypertrophic cardiomyopathy genetics (MYBPC3, MYH7, sarcomeric proteins)

Renal genetics

🔒 Atypical HUS - complement regulatory gene defects (Factor H, Factor I, MCP)5 🔒 Autosomal dominant polycystic kidney disease genetics (PKD1, PKD2)3