《医学遗传学 Medical Genetics》课程PPT教学课件（英文版）Monogenic Disease

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