Mendelian disorders

Mechanism-based high blood pressure treatments (numerous rare Mendelian disorders)... 

As with other organ systems, the consideration of using gene therapy in the airways has generally begun with simple Mendelian disorders, like CF. However, asthma is a much more prevalent multifactorial... 

The rediscovery of Mendel s laws, the demonstration of crossing-over, the chromosome theory of heredity, the link between sex and XX or XY chromosomes, and the discovery of the first Mendelian disorders in man (alcaptonuria and brachydactyly) were all obtained in the first ten years of the twentieth century. In that brief period of time, light was thrown on the millennial mystery of heredity, and genetics became a science. 

Genetic disorders produced by a single causal gene, such as our example of dystrophin mutations leading to Duchenne muscular dystrophy, are termed Mendelian disorders, after the Austrian monk Gregor Mendel (1822-1884), who discovered unitary inheritance in pea plants. There are three primary types of Mendelian inheritance. First, dominant genetic variants or alleles produce a trait or disease if one copy of the allele is sufficient to cause the disease (e.g. Huntington disease). Sec-... 

Dipple, K.M. McCabe, E.R. Phenotypes of patients with simple mendelian disorders are complex traits thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 2000, 66, 1729-1735. 

Disorders with polygenic inheritance- diabetes mellitus, gout Mendelian disorders---X-linked disorders, autosomal dominant and recessive... 

Antonarakis SE, Beckmann JS (2006) Mendelian disorders deserve more attention. Nat Rev Genet 7-.277-282... 

Ethnic correlations with Mendelian disorders include higher frequencies of cystic fibrosis in whites, sickle cell anemia in blacks, p-thalassemia in Italians and Greeks, a-thalassemia in Asians, and Tay-Sachs disease in Jews. 

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