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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]
Mendel himself warned that care was needed in extrapolating his patterns to other organisms or traits. Indeed, many organisms have traits whose inheritance works differently from the principles he described; these traits are called non-Mendelian. [46] [47] For example, Mendel focused on traits whose genes have only two alleles, such as "A" and "a".
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.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance".
Genes are the common factor of the qualities of most human-inherited traits. Study of human genetics can answer questions about human nature, can help understand diseases and the development of effective treatment and help us to understand the genetics of human life. This article describes only basic features of human genetics; for the genetics ...
Mendelian patterns of inheritance can be complicated by additional factors. Some diseases show incomplete penetrance, meaning not all individuals with the disease-causing allele develop signs or symptoms of the disease. [13] [15] [16] Penetrance can also be age-dependent, meaning signs or symptoms of disease are not visible until later in life.
Some hemoglobinopathies (diseases of the blood) like Sickle Cell Anemia exist on a spectrum. Sickle Cell Anemia is an autosomal recessive, prototypical monogenic Mendelian disease, meaning that the disease follows Mendelian inheritance and is traced back to a single gene. Individuals with Sickle Cell Anemia present different severities of symptoms.