Medic, Genetics Monogenic disease
Monogenic Disease Medical Genetics
OMIM Statistics for May 5, 2004 Autosomal 14353 X-linked 857 Y-linked 48 Mitochondrial 60 15318 http://www.ncbi.nim.nih.gov/omim/mimsTats.html
OMIM Statistics for May 5, 2004 Autosomal 14353 X-linked 857 Y-linked 48 Mitochondrial 60 15318 http://www.ncbi.nlm.nih.gov/Omim/mimstats.html
Basic Conception Dominant A Recessive Homozygote Aa or aa Heterozygote-Aa Genotype &z phenotype
Basic Conception Dominant —— A Homozygote —— AA or aa Heterozygote —— Aa Genotype & Phenotype Recessive —— a
Pedigree Proband(Index case)
Proband (Index case) Pedigree
Pedigree Proband (Index case
Ⅰ Ⅱ 1 2 1 2 3 Proband (Index case) Pedigree
Autosomal Dominant (AD) ad diseases are those in which a single copy of a mutant gene on autosome is enough for the trait to be expressed or shown
AD diseases are those in which a single copy of a mutant gene on autosome is enough for the trait to be expressed or shown. Autosomal Dominant (AD)
Pedigree Characteristics Aa gamete H'lLtkk
Pedigree Characteristics Aa aa P × 1 : 1 F1 gamete
Pedigree Characteristics Each affected individual has one affected parent 50% of sibs are affected. Males and females are affected with equal probability X 50% of offspring are affected Passed in a vertical fashion
Each affected individual has one affected parent 50% of sibs are affected. Males and females are affected with equal probability 50% of offspring are affected Passed in a vertical fashion Pedigree Characteristics
ypes of AD X Complete dominance X Incomplete dominance(semidominance) Codominance Irregular dominance X Delayed dominance Sex-influenced dominance
Complete dominance Incomplete dominance (semidominance) Codominance Delayed dominance Irregular dominance Sex-influenced dominance Types of AD
Autosomal Recessive (AR) ar diseases are characterized only in individuals homozygous for the mutant gene on autosome. Carrier(aa)
Autosomal Recessive (AR) Carrier (Aa) AR diseases are characterized only in individuals homozygous for the mutant gene on autosome