Contents Basic concepts and research methods of monogenic The basic genetics style of monogenic disease >Influence factors of monogenic disease analysis Recurrence risk assessment of monogenic disease
Contents ➢ Basic concepts and research methods of monogenic ➢ The basic genetics style of monogenic disease ➢ Influence factors of monogenic disease analysis ➢ Recurrence risk assessment of monogenic disease
Transmission pattern of single-gene disorders Autosomal Dominant Disorders Autosomal Recessive Disorders X-linked Disorders X-linked Dominant Disorders X-linked Recessive Disorders
Transmission pattern of single-gene disorders ◆ Autosomal Dominant Disorders ◆ Autosomal Recessive Disorders ◆ X-linked Disorders X-linked Dominant Disorders X-linked Recessive Disorders
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)
Types of AD ◆Complete dominance Incomplete dominance (semidominance) ◆Codominance ◆Irregular dominance ◆Delayed dominance Sex-influenced dominance
◆ Complete dominance ◆ Incomplete dominance (semidominance) ◆ Codominance ◆ Delayed dominance ◆ Irregular dominance ◆ Sex-influenced dominance Types of AD
Complete Dominance Pedigree Characteristics P × gamete F
◆ Pedigree Characteristics Aa aa P × 1 : 1 F1 gamete Complete Dominance