Chapter 2. Practical Inheritance

  1. Robin L. Bennett

Published Online: 19 MAR 2002

DOI: 10.1002/0471223913.ch2

The Practical Guide to the Genetic Family History

The Practical Guide to the Genetic Family History

How to Cite

Bennett, R. L. (2002) Practical Inheritance, in The Practical Guide to the Genetic Family History, John Wiley & Sons, Inc., New York, USA. doi: 10.1002/0471223913.ch2

Publication History

  1. Published Online: 19 MAR 2002
  2. Published Print: 7 APR 1999

ISBN Information

Print ISBN: 9780471251545

Online ISBN: 9780471223917

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Keywords:

  • inheritance patterns;
  • inheritance patterns (non-traditional);
  • X-linked inheritance;
  • mitochondrial inheritance;
  • contiguous gene

Summary

This chapter provides clues for distinguishing the primary patterns of human inheritance including:

  • Autosomal dominant

  • Autosomal recessive

  • X-linked (dominant and recessive)

  • Chromosomal

  • Contiguous gene

  • Mitochondrial

  • Multifactorial and polygenic disorders

  • Y-inheritance

  • Non-traditional patterns of inheritance

Confounding factors for recognizing patterns of inheritance are also reviewed. These include:

  • Variable expressivity

  • Clinical or genetic heterogeneity

  • Sex-influenced or sex-limited gene expression

  • Assortative mating

  • Family size

  • Misattributed paternity

  • New hereditary mutations

  • Mosaicism (somatic and gonadal)

  • Sporadic conditions

  • Environmental factors

The family pedigree serves as a template for new discoveries in gene action and interaction as the practice of genomic medicine unfolds.