Pedigree Characteristics } gamete × F,}}! 1 1
P × 1 : 1 : 1 : 1 F1 Pedigree Characteristics gamete × 1 : 1
Pedigree Characteristics X Both parents are carriers 25% of sibs are affected. Males and females are affected with equal probability 2/3 of unaffected sibs are carriers X The diseases are sporadic X The risk of offspring is higher in consanguineous marriage
Both parents are carriers The diseases are sporadic The risk of offspring is higher in consanguineous marriage 25% of sibs are affected. Males and females are affected with equal probability Pedigree Characteristics 2/3 of unaffected sibs are carriers
Autosomal Recessive (AR) Two questions 1. Small famil 2. Consanguineous marriage
1. Small family Two questions 2. Consanguineous marriage Autosomal Recessive (AR)
Autosomal Recessive (AR) Protein Protein PAH T yrosinase Phe Dopa Melanin Phenylypruvic acid Phenyllactic Phenylacetic acid acid Benzophenone
PAH Phenyllactic acid Benzophenone Autosomal Recessive (AR) Tyrosinase Phe Dopa Melanin Protein Tyr Protein Phenylypruvic acid Phenylacetic acid
Phenylketonuria, PKU I Protein MIM261600 Phe PA升T Infants with PKU have a mousy odor Phenylypruvic 2. Infants with pku have acid fairer hair and skin 3. This disease can cause Phenyllactic Phenylacetic acid acid significant mental problems Benzophenone
Phenylketonuria，PKUⅠ MIM 261600 1. Infants with PKU have a mousy odor PAH Phenyllactic acid Benzophenone Phe Protein Tyr Phenylypruvic acid Phenylacetic acid × 2. Infants with PKU have fairer hair and skin 3. This disease can cause significant mental problems