autosomal recessive

From Aaushi
Jump to navigation Jump to search


Introduction

A mode of inheritance from autosomes in which inheritance of a both alleles for the trait need to be affected for phenotypic manifestation of the trait. The classic example is blue eyes.

Of interest, is the types of mutations that manifest as disease that is inherited in an autosomal recessive pattern.

These include:

  • loss of function mutations (absence of a protein)

More general terms