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Mendelian Genetic Disorders

  1. Martin Alexander Kennedy

Published Online: 23 SEP 2005

DOI: 10.1038/npg.els.0003934

eLS

eLS

How to Cite

Kennedy, M. A. 2005. Mendelian Genetic Disorders. eLS. .

Author Information

  1. University of Otago, Christchurch, New Zealand

Publication History

  1. Published Online: 23 SEP 2005

Abstract

Mendelian disorders occur in families with a pattern that reflects the inheritance of a single causative gene. Studies of families with conditions such as cystic fibrosis, Huntington disease and fragile X syndrome reveal a variety of inheritance patterns that reflect the nature of the underlying gene and the causative genetic lesion.

Keywords:

  • familial disease;
  • pedigree analysis;
  • autosomal recessive;
  • autosomal dominant;
  • X-linked