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Modes of Mendelian Inheritance Associated with AI

Autosomal Dominant Inheritance
  • Can have male to male transmission.
  • On average, half of the offspring of an affected individual will be affected. There is a 50% chance for the child of an affected individual to be affected.
  • Affected males and females have similar clinical presentation.
Autosomal Recessive Inheritance
  • Unaffected parents will have affected offspring.
  • On average, one in four offspring of carrier parents will be affected.
  • More likely to occur when parents are related (consanguineous relationship).
X-linked recessive inheritance
  • Do not have male to male transmission.
  • All daughters of an affected male are carriers.
  • Half of the sons born to a carrier female will be affected.
  • Affected males have more severe manifestations than females.
  • Females can show no manifestations to severe manifestations due to lyonization. Females express only one X chromosome per cell with the other X chromosome becoming the bar body. If adequate numbers of cells express the X chromosome carrying the mutant allele, they will have varying degrees of the enamel defect.

To understand the molecular basis of the different AI conditions a basic understanding of human genetics is helpful. There are numerous WEB sites offering very basic to highly advanced information on human genetics. Links to several of these WEB sites are provided below.

More on Mendelian Genetics:
http://www.uic.edu/classes/bms/bms655/lesson2.html
http://webpages.marshall.edu/~adkinsda/B111OutlinesMendelHuman.html
http://med.usd.edu/som/genetics/curriculum/1FMENDL4.htm