Info iconThis preview shows pages 1–3. Sign up to view the full content.

View Full Document Right Arrow Icon
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
Background image of page 1

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
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
Background image of page 2
Image of page 3
This is the end of the preview. Sign up to access the rest of the document.

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.

Page1 / 10


This preview shows document pages 1 - 3. Sign up to view the full document.

View Full Document Right Arrow Icon
Ask a homework question - tutors are online