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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 .
The study of human genetic variation has evolutionary significance and medical applications. It can help scientists reconstruct and understand patterns of past human migration. In medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in certain population groups.
Human variability, or human variation, is the range of possible values for any characteristic, physical or mental, of human beings. Frequently debated areas of variability include cognitive ability , personality , physical appearance ( body shape , skin color , etc.) and immunology .
Genetic disorders can be caused by any or all known types of sequence variation. To molecularly characterize a new genetic disorder, it is necessary to establish a causal link between a particular genomic sequence variant and the clinical disease under investigation. Such studies constitute the realm of human molecular genetics.
A study of the human immune system in 2015 [10] uses the same general concepts to identify several loci involved in the development of the immune system, but, like the other studies outlined here, failed to consider other aspects of genetic architecture, such as environmental influences. Unfortunately, many other aspects of genetic architecture ...
Genetic studies of traits and populations have been used to justify social inequalities associated with race, [7] despite the fact that patterns of human variation have been shown to be mostly clinal, [8] with human genetic code being approximately 99.6% – 99.9% identical between individuals and without clear boundaries between groups.
A wide range of methods have been developed to assess the structure of human populations with the use of genetic data. Early studies of within and between-group genetic variation used physical phenotypes and blood groups, with modern genetic studies using genetic markers such as Alu sequences, short tandem repeat polymorphisms, and single nucleotide polymorphisms (SNPs), among others. [11]
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]