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Inheritance Patterns of Mongenic Disorders

Inheritance Patterns of Mongenic Disorders

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Published by: gladson on May 09, 2012
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5/9/12 Inheritance patterns of mongenic disorders1/3www.geneticalliance.org.uk/education2.htm
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you are here:home>>information centre>>inheritance patterns
Information LeafletsInformation on Life and TravelinsuranceInformation Leaflets in Other LanguagesIntroduction to GeneticsInheritance PatternsNHS Genetic Services in theUKGenetic testing in EuropeIncidence of GeneticDisordersGenetic Predisposition toCommon DiseasesVideo Stories about Self-management of ConditionsGenetic QuizGlossary of Genetic TermsUseful Links
 
Information Centre
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
glossary
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
genetic disorders
of adult life, such as polycystic kidney diseaseand
Huntington's Disease.
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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5/9/12 Inheritance patterns of mongenic disorders2/3www.geneticalliance.org.uk/education2.htm
 
Autosomal Recessive Inheritance
A single gene also causes monogenic autosomal
recessive
disorders. But for thedisorder to occur, both copies of the gene need to be defective. If just a single copyis inherited, the single functional copy is sufficient to over-ride the defective copy andthe individual is not affected by the disorder, but is rather a
carrier
of the condition.Each of us, usually in ignorance of the fact, is a carrier for about six conditions. Highfrequencies of recessive disorders in a particular population are usually due tohistorical factors. Such is the case in sickle-cell anaemia, Tay-Sachs disease andcystic fibrosis, all of which are more common in some racial groups than in others.The origin of such variations is thought to lie in the relative benefits conferred by thecarrier state in certain circumstances. For example, a single copy of the defectivesickle-cell gene grants some protection against malaria, while a single copy of the
cystic fibrosis
gene offers some protection against cholera.In the diagram below, the disorder-causing allele (or version of gene) is marked "d"and the normal copy "N". Observe how both parents are carriers. In this example,the children have a one in four chance of inheriting both defective copies (and thedisorder), a one in two chance of being a carrier (heterozygous for the defectivegene) and a one in four chance of being neither affected nor a carrier. Note that theoccurrence of the disorder is not affected by the sex of the child. 

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