浙江大学《遗传学》课件-chapter5 Inborn error of metabolism and molecular disease.pptVIP

Hb S: sickle cell hemoglobin HbS is the first variant to be discovered (1949). Its main reservoir is Central Africa where the carrier rate approximates 20%. (Heterozygous advantage) Approximately 8% of African-Americans will carry one sickle gene. Linus Pauling (1901-1994) Heterozygote Advantage杂合子优势 Mutant allele has a high frequency despite reduced fitness in affected individuals. Heterozygote has increased fitness over both homozygous genotypes e.g. Sickle cell anemia. Thalassemia地贫: An imbalance of globin-chain synthesis Hb synthesis characterized by the absence or reduced amount o