733Lecture05

733Lecture05 - INHERITANCE PATTERNS "SIMPLE MENDELIAN...

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INHERITANCE PATTERNS “SIMPLE MENDELIAN INHERITANCE” what are the typical pedigree patterns for “simple” Mendelian expectations? The purpose of generating a family history: 1. An aid to correct diagnosis 2. To determine an accurate prognosis 3. Pre-symptomatic diagnosis of genetic disease and prevention or avoidance of clinical disease. 4. Pre-conception counseling factors to consider parental patterns – does trait occur in at least one parent of all affected probands? – is sex of transmitting parent random? sex distribution of affected probands recurrence risk for additional sibs carrier term applied to heterozygous individuals for recessive traits – heterozygotes do not express phenotype autosomal dominant Phenotype appears in each generation – every affected individual has an affected parent males and females equally likely to transmit the phenotype to children of either sex – male-to-male transmission – males can have unaffected daughters autosomal dominant Phenotypically normal individuals in the family do not transmit the phenotype to their children – assuming 100% penetrance
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autosomal dominant autosomal dominant Examples: – Achondroplasia ( FGFR3 - 4p16.3 ) – Familial Hypercholesterolemia (19p13.2) autosomal dominant recurrence risk: – any additional child of an affected person has a 50% risk of inheriting the trait • assuming second parent is unaffected – each child “independent” pedigree showing inheritance of
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This note was uploaded on 07/17/2008 for the course EEOB 733 taught by Professor Burghes during the Spring '05 term at Ohio State.

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733Lecture05 - INHERITANCE PATTERNS "SIMPLE MENDELIAN...

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