Human Genetics

From WikiMD's Food, Medicine & Wellness Encyclopedia

Human Genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.

Classical Genetics[edit | edit source]

Classical genetics is the branch of genetics based on Mendelian inheritance. It involves the study of chromosomes and gene expression of an organism can give insight into heredity, genetic variation, and mutations. This is achieved by looking at the phenotypic expression of the genetic makeup of an individual.

Cytogenetics[edit | edit source]

Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of the cell, especially the chromosomes. It includes routine analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH).

Molecular Genetics[edit | edit source]

Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many genetic diseases. Molecular genetics techniques are used in gene therapy.

Biochemical Genetics[edit | edit source]

Biochemical genetics involves the study of gene linkages and how the genes interact with each other. This also includes the study of non-Mendelian inheritance patterns.

Genomics[edit | edit source]

Genomics is the study of the entirety of an organism's genes, known as the genome. Genomics uses a combination of recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyze the function and structure of genomes.

Population Genetics[edit | edit source]

Population genetics is the branch of evolutionary biology responsible for investigating processes that cause changes in allele and genotype frequencies in populations based upon Mendelian inheritance.

Developmental Genetics[edit | edit source]

Developmental genetics involves the study of how genes control the growth and development of an organism throughout its life-cycle.

Clinical Genetics[edit | edit source]

Clinical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Clinical genetics is the application of genetics to medical care.

Genetic Counseling[edit | edit source]

Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning.

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Contributors: Prab R. Tumpati, MD