Medical genetics
All the medical genetics in DurgiPedia, in course order: from the genome and inheritance to chromosomes, epigenetics, single-gene and complex disorders, cancer, treatment and genetic counselling. Each topic opens its own page.
118 pages
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- The genome and gene expressionCentral dogma of molecular biologyInformation flows from DNA to RNA and from RNA to protein; replication copies DNA and reverse…
- Single-gene inheritanceInheritance concepts, genotype–phenotype and the pedigreeThe words geneticists use to link a genotype to what a person shows, and how a three-generation…
- Chromosomes and cytogeneticsChromosome abnormalities: number and structureAn extra chromosome, a missing one, or a piece lost or moved alters many genes at once and…
- Variation and mutationInterpreting genetic variants: classes, evidence and databasesFinding a DNA change is the easy part; deciding whether it causes disease uses population data…
- EpigeneticsEpigenetics: DNA and histone methylationEpigenetics means chemical marks on DNA and histones that switch genes on or off without…
- Complex traits and populationsMultifactorial (complex) disordersThe commonest diseases, such as type 2 diabetes and hypertension, arise from many genes of small…
- Cancer geneticsHereditary cancer syndromes: the table to knowA few families inherit a faulty cancer gene
- Counselling, prenatal diagnosis and genomic medicineGenetic counselling and risk assessmentGenetic counselling helps families understand a diagnosis, the risk to relatives and their…
Areas
- TThe genome and gene expression9 pagesCentral dogma of molecular biology · DNA structure and chromatin · Transcription
- VVariation and mutation7 pagesTypes of mutations · Where new mutations come from: de novo variants, rates and parental age · DNA polymorphisms, linkage and DNA fingerprinting
- Chromosomes and cytogenetics11 pagesChromosome abnormalities: number and structure · Trisomies 21, 18 and 13, and the 22q11.2 deletion · Sex chromosome disorders: Klinefelter and Turner
- SSingle-gene inheritance6 pagesMendelian inheritance: autosomal dominant, recessive and X-linked · Inheritance concepts, genotype–phenotype and the pedigree · How a single gene causes disease: enzymes, receptors and structural proteins
- Epigenetics6 pagesEpigenetics: DNA and histone methylation · 5-Methylcytosine · Epigenetic disorders, environment and methylation testing
- CComplex traits and populations4 pagesMultifactorial (complex) disorders · Complex traits: familial risk, twins, heritability and polygenic scores · Population genetics: Hardy–Weinberg and carrier frequency
- Finding genes and testing5 pagesHow disease genes are found: linkage, association and sequencing · DNA sequencing · Polymerase chain reaction (PCR)
- The molecular basis of disease13 pagesHemoglobin variants (HbA, HbA2, HbF, HbS, HbC) · Sickle cell disease · Thalassemias (α and β)
- Treating genetic disease6 pagesTreatment of genetic disease: from diet to gene therapy · Newborn screening · Lysosomal storage diseases
- Developmental genetics6 pagesMolecular regulation: Shh, Wnt, FGF, BMP, Hox genes and retinoic acid · Weeks 3–8: the embryonic period and organogenesis · Principles of teratology: critical periods, dose and genotype
- Cancer genetics12 pagesOncogenes and tumour suppressor genes · Oncogenes: RAS, MYC, HER2, BCR-ABL and the table to know · Tumour suppressor genes: RB, TP53, APC, BRCA and the two-hit hypothesis
- CCounselling, prenatal diagnosis and genomic medicine8 pagesGenetic counselling and risk assessment · Preconception and prenatal genetics: screening, diagnosis and fetal therapy · Prenatal diagnosis: ultrasound, serum screening, cell-free DNA, CVS, amniocentesis
- CClinical cases25 pagesAchondroplasia · Age-related macular degeneration · Alzheimer disease
This section is an index: it gathers pages from Biochemistry, Pathology, Embryology and other sections without repeating them. Educational content; it does not replace a geneticist's assessment or genetic counselling.
Representative model, for educational purposes only.