5/9/12 Inheritance patterns of mongenic disorders1/3www.geneticalliance.org.uk/education2.htm
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Inheritance Patterns for monogenic geneticdisorders
Explaining inheritance patterns for monogenic geneticdisorders
Monogenic genetic disorders occur as a direct consequence of a single gene beingdefective. Such disorders are inherited (passed on from one generation to another)in a simple pattern according to Mendel's Laws. As such, these disorders are oftenreferred to as Mendelian disorders. However, many disorders are not inherited in thispattern. These include disorders due to more than one gene (polygenic disorders),those caused by mutations in non-nuclear mitochondrial genes (such as Leber'satrophy) and nucleotide repeat disorders (such as myotonic dystrophy).You may want to consult the
Introduction to Genetics
page at this point beforeproceeding. The
may also be useful.
Autosomal Dominant Inheritance
Monogenic autosomal dominant disorders occur through the inheritance of a singlecopy of a defective gene found on a non-sex chromosome (remember, we each havetwo copies of each gene, one from each parent). The single defective copy issufficient to over-ride the normal functioning copy, resulting in abnormal proteinfunctioning or expression. Autosomal dominant disease include many of the seriousand more common
of adult life, such as polycystic kidney diseaseand
In the diagram below, the disorder-causing allele (version of gene) is marked "D"and the normal copy "n". Observe how the father's single "D" causes the disorder tooccur in him as well as 50% of his children (assuming the mother does not carry acopy of this gene). Note also that the occurrence of the disorder in his children is notaffected by the sex of his children.
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