Human genetics is studied through various approaches and techniques that allow scientists to understand the inheritance, variation, and expression of genes in humans. Some common methods include:
Family Pedigree Studies: Observing patterns of inheritance within families to determine the likelihood of certain traits or diseases passing from one generation to the next. This can involve pedigree analysis to trace specific traits through generations.
A pedigree chart shows the inheritance of a trait over several generations.
Twin Studies: Comparing the similarities and differences between identical (monozygotic) and fraternal (dizygotic) twins to understand the genetic and environmental contributions to certain traits or diseases.
Genome Sequencing: Analyzing an individual's entire genetic makeup (genome) to identify genetic variations, mutations, and their associations with diseases or traits. Advances in technology have made whole-genome sequencing more accessible and affordable.
Association Studies: Examining the relationship between specific genetic variations (such as single nucleotide polymorphisms - SNPs) and particular traits or diseases within large populations. Genome-wide association studies (GWAS) are a common approach in this area.
Molecular Biology Techniques: Using tools like PCR (polymerase chain reaction), DNA sequencing, and gene editing technologies (like CRISPR/Cas9) to manipulate and study specific genes, understand their functions, and explore potential therapeutic applications.
Bioinformatics: Analyzing large-scale genetic data using computational methods to identify patterns, correlations, and associations between genetic variations and phenotypic traits or diseases.
Human Genetic Diseases
- Albinism - inability to produce pigment, white hair and skin, autosomal recessive
- Huntingtons - symptoms of mental illness appear late in life, autosomal dominant
- Sickle Cell Disease - blood cells shaped abnormally, autosomal recessive
- Tay Sachs - fat builds up in the brain of infants causes degeneration and early death, autosomal recessive
- Hemophilia - bleeder's disease, inability of the blood to clot, sex linked recessive
- Cystic Fibrosis - mucus builds up in lungs causing respiratory problems, autosomal recessive
- Duchenne Muscular Dystrophy - causes progressive muscle weakness, sex-linked recessive
Resources Related to Human Genetics
SRY not SRY - case study on the sex determining region of the Y chromosomes