BIOSC 0150 Lecture Notes - Lecture 35: Glycogen Storage Disease Type Ii, Achondroplasia, Rickets
Document Summary
Using pedigrees to determine inheritance patterns of human disease. Applying mendel"s rules to human inheritance: cannot make experimental crosses in humans. We don"t have true breading humans: pedigrees, or family trees, are used to learn the mode of transmission for a given trait, pedigree may reveal: Whether a phenotype is due to a dominant or recessive allele. Whether it is on a sex chromosome or autosome. Scientists use pedigrees to determine the inheritance patterns of human diseases: represents a family, use [] (square) for male and o (circle) for female o. Shade in for people who show the disease. Genotypic pedigrees identify carriers of recessive traits: carriers can be denoted by half shading the square or circle o. If carriers are identified, it automatically means that it is recessive. Autosomal recessive trait (i. e. pompe disease: males and females are equally likely to be affected, affected offspring often have unaffected parents.