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There are thousands of single-gene diseases including achondroplasia, cystic fibrosis, hemophilia, Huntington disease, muscular dystrophy, and sickle cell disease.Single-gene diseases usually follow simple Mendelian patterns of inheritance -- autosomal dominant, an autosomal recessive, or an X-linked.Single gene diseases are as opposed to polygenic diseases which are caused by a combination of two or more genes.ingle-gene diseases usually follow simple Mendelian patterns of inheritance -- autosomal dominant, an autosomal recessive, or an X-linked. Single gene diseases are as opposed to polygenic diseases which are caused by a combination of two or more genes.
Single-gene diseases run in families and can be dominant or recessive, and autosomal or sex-linked. Pedigree analyses of large families with many affected members are very useful for determining the inheritance pattern of single-gene diseases. Table 1 includes some examples of single-gene diseases.or example, identical twins with the same mutation in the gene associated with Duchenne muscular dystrophy, called DMD, can exhibit strikingly different disease phenotypes due to different patterns of X chromosome inactivation (Abbadi et al.