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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 .
Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders.
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
The chromosome theory of inheritance is credited to papers by Walter Sutton in 1902 [5] and 1903, [6] as well as to independent work by Theodor Boveri during roughly the same period. [7] Boveri was studying sea urchins , in which he found that all the chromosomes had to be present for proper embryonic development to take place. [ 8 ]
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.
Schematic karyogram showing the human genome, with 23 chromosome pairs, and the human mitochondrial genome to scale at bottom left (annotated "MT").Its genome is relatively tiny compared to the rest, and its copy number per human cell varies from 0 (erythrocytes) [1] up to 1,500,000 ().
These inheritance patterns can also be applied to hereditary diseases or conditions in humans or animals. [11] [12] [13] Some conditions are inherited in an autosomal dominant pattern, meaning individuals with the condition typically have an affected parent as well. A classic pedigree for an autosomal dominant condition shows affected ...
The word pedigree is a corruption of the Anglo-Norman French pé de grue or "crane's foot", either because the typical lines and split lines (each split leading to different offspring of the one parent line) resemble the thin leg and foot of a crane [3] or because such a mark was used to denote succession in pedigree charts.