Mendelian Genetics: Patterns of Inheritance and Single-Gene Disorders

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By: Heidi Chial, Ph.D. (Write Science Right) © 2008 Nature Education
Citation: Chial, H. (2008) Mendelian genetics: Patterns of inheritance and single-gene disorders. Nature Education 1(1)
What can Gregor Mendel’s pea plants tell us about human disease? Single gene disorders, like Huntington’s disease and cystic fibrosis, actually follow Mendelian inheritance patterns.

Mendel’s studies of inheritance patterns in pea plants are a solid foundation for our current understanding of single-gene diseases in humans. Also called Mendelian or monogenic diseases, these kinds of diseases are caused by mutations in one gene, and they sometimes run in families. Pedigree analyses of large families with many affected individuals can be used to determine whether a disease-associated gene is located on an autosome or on a sex chromosome, and whether the related disease phenotype is dominant or recessive.

Autosomal Recessive Single-Gene Diseases

Autosomal recessive single-gene diseases occur only in individuals with two mutant alleles of the disease-associated gene. Remember, for any given gene, a person inherits…

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