AD Affected parent (Aa) Gametes A Aa aa normal aa affecter normal oElsevierLtd.tumpenny&EllardEmery'sElementsofMedicalGenetics12ewww.studentconsult.com
AD
AD Aa aa Aa aa Aa aa aa Aa Aa aa Aa Aa aa
AD
Disease Frequency per 1000 births Inherited breast cancer susceptibility 5-10-(for females Inherited colon cancer susceptibility Dominant otosclerosis Familial hypercholesterolaemia 3221 AD Familia hypertrophic cardiomyopathy Von Willebrand disease Adult polycystic kidney disease Multiple exostoses 0.5 Neurofibromatosis type 1 0.4 Huntington disease 0.3 Myotonic dystrophy 0.2 Congenital spherocytosis 0.2 Marfan syndrome 0.2 Tuberous sclerosis 0.1 Familial adenomatous polyposis 0.1 Dominant blindness 0.1 Dominant congenital deafness 0.1 Others 0.8 Total(approximate)
AD
AR A Dominant allele Recessive allele Genotype homozygous heterozygous homozygous Phenotype unaffected unaffected affected
AR
AR normal heterozygous parent Gametes A a AA A A 8 Normal Unaffected heterozygote Aa aa Unaffected Affected heterozygote CElsevierLtd.Tumpenny&EllardEmery'selementsofMedicalgenetics12ewww.studentconsult.com
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