[Durgical](https://durgical.com/en/) › [DurgiPedia](https://durgical.com/en/durgipedia/) › Medical genetics # 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 ## Start here - [The genome and gene expression **Central dogma of molecular biology** Information flows from DNA to RNA and from RNA to protein; replication copies DNA and reverse…](https://durgical.com/en/biochemistry/topics/central-dogma-of-molecular-biology/) - [Single-gene inheritance **Inheritance concepts, genotype–phenotype and the pedigree** The words geneticists use to link a genotype to what a person shows, and how a three-generation…](https://durgical.com/en/biochemistry/topics/inheritance-concepts-genotype-phenotype-and-the-pedigree/) - [Chromosomes and cytogenetics **Chromosome abnormalities: number and structure** An extra chromosome, a missing one, or a piece lost or moved alters many genes at once and…](https://durgical.com/en/general-pathology/chromosome-abnormalities-number-and-structure/) - [Variation and mutation **Interpreting genetic variants: classes, evidence and databases** Finding a DNA change is the easy part; deciding whether it causes disease uses population data…](https://durgical.com/en/biochemistry/topics/interpreting-genetic-variants-classes-evidence-and-databases/) - [Epigenetics **Epigenetics: DNA and histone methylation** Epigenetics means chemical marks on DNA and histones that switch genes on or off without…](https://durgical.com/en/biochemistry/topics/epigenetics-dna-and-histone-methylation/) - [Complex traits and populations **Multifactorial (complex) disorders** The commonest diseases, such as type 2 diabetes and hypertension, arise from many genes of small…](https://durgical.com/en/general-pathology/multifactorial-disorders/) - [Cancer genetics **Hereditary cancer syndromes: the table to know** A few families inherit a faulty cancer gene](https://durgical.com/en/general-pathology/hereditary-cancer-syndromes-the-table-to-know/) - [Counselling, prenatal diagnosis and genomic medicine **Genetic counselling and risk assessment** Genetic counselling helps families understand a diagnosis, the risk to relatives and their…](https://durgical.com/en/biochemistry/topics/genetic-counselling-and-risk-assessment/) ## Areas - [**T** **The genome and gene expression** 9 pages Central dogma of molecular biology · DNA structure and chromatin · Transcription](https://durgical.com/en/genetics/genome/) - [**V** **Variation and mutation** 7 pages Types of mutations · Where new mutations come from: de novo variants, rates and parental age · DNA polymorphisms, linkage and DNA fingerprinting](https://durgical.com/en/genetics/variation/) - [**Chromosomes and cytogenetics** 11 pages Chromosome abnormalities: number and structure · Trisomies 21, 18 and 13, and the 22q11.2 deletion · Sex chromosome disorders: Klinefelter and Turner](https://durgical.com/en/genetics/chromosomes/) - [**S** **Single-gene inheritance** 6 pages Mendelian 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](https://durgical.com/en/genetics/inheritance/) - [**Epigenetics** 6 pages Epigenetics: DNA and histone methylation · 5-Methylcytosine · Epigenetic disorders, environment and methylation testing](https://durgical.com/en/genetics/epigenetics/) - [**C** **Complex traits and populations** 4 pages Multifactorial (complex) disorders · Complex traits: familial risk, twins, heritability and polygenic scores · Population genetics: Hardy–Weinberg and carrier frequency](https://durgical.com/en/genetics/complex/) - [**Finding genes and testing** 5 pages How disease genes are found: linkage, association and sequencing · DNA sequencing · Polymerase chain reaction (PCR)](https://durgical.com/en/genetics/testing/) - [**The molecular basis of disease** 13 pages Hemoglobin variants (HbA, HbA2, HbF, HbS, HbC) · Sickle cell disease · Thalassemias (α and β)](https://durgical.com/en/genetics/molecular-basis/) - [**Treating genetic disease** 6 pages Treatment of genetic disease: from diet to gene therapy · Newborn screening · Lysosomal storage diseases](https://durgical.com/en/genetics/treatment/) - [**Developmental genetics** 6 pages Molecular 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](https://durgical.com/en/genetics/development/) - [**Cancer genetics** 12 pages Oncogenes 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](https://durgical.com/en/genetics/cancer/) - [**C** **Counselling, prenatal diagnosis and genomic medicine** 8 pages Genetic counselling and risk assessment · Preconception and prenatal genetics: screening, diagnosis and fetal therapy · Prenatal diagnosis: ultrasound, serum screening, cell-free DNA, CVS, amniocentesis](https://durgical.com/en/genetics/counselling/) - [**C** **Clinical cases** 25 pages Achondroplasia · Age-related macular degeneration · Alzheimer disease](https://durgical.com/en/genetics/cases/) - 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. --- Source: https://durgical.com/en/genetics/ License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/genetics/