Common methods used in human genetics analysis

Human genetics Human matings, like those of experimental organisms, show inheritance patterns both of the type discovered by Mendel (autosomal inheritance) and of sex linkage. Because controlled experimental crosses cannot be made with humans, geneticists must resort to scrutinizing records in the hope that informative matings have been made by chance. Such a scrutiny of records of matings is called pedigree analysis. A member of a family who first comes to the attention of a geneticist is called the propositus. Usually the phenotype of the propositus is exceptional in some way (for example, the propositus might be a dwarf). The investigator then traces the history of the phenotype in the propositus back through the history of the family and draws a family tree, or pedigree, by using the standard symbols. Many pairs of contrasting human phenotypes are determined by pairs of alleles. Inheritance patterns in pedigree analysis can reveal such allelic determination, but the clues in the pedigree have to be interpreted differently, depending on whether one of the contrasting phenotypes is a rare disorder or whether both phenotypes of a pair are morphs of a polymorphism. Rare inherited disorders are the domain of medical genetics. #GeneticsFieldOfStudy #HumanGeneticsFieldOfStudy #Autosomal #inheritance #SexLinkage #PedigreeAnalysis #propositus #pedigree #phenotypes #alleles #allelicDetermination #polymorphism #medicalGenetics