Pedigree Analysis Mendelian inheritance 8 Non-Mendelian inheritance Others
Pedigree Analysis ❖ Mendelian inheritance ❖ Non-Mendelian inheritance ❖ Others
Cytogenetics Fragile site In situ hybridization
Cytogenetics ❖ Fragile site ❖ In situ hybridization
Cytogenetics . Growth retardation mental retardation Balanced translocation mosaic 冷 Affected in family &o Multiple abortion woman and her husband Infertility Advanced maternal age Internalyexternal genital malformation
Cytogenetics ❖ Growth retardation & Mental retardation ❖ Balanced translocation & Mosaic ❖ Affected in family ❖ Multiple abortion woman and her husband ❖ Infertility ❖ Advanced maternal age ❖ Internal/external genital malformation
Clinical Chemistry o Newborn Screening Phenylketonuria, PKU I Enzyme activity PAH Liver Blood sample Bacillus subtilis Guthrie test Fecl 3 Phenylpyruvic acid Green
Clinical Chemistry Phenylketonuria, PKUⅠ Enzyme activity PAH Liver Blood sample Bacillus subtilis Guthrie test FeCl3 Phenylpyruvic acid Green ❖ Newborn Screening
Gene Diagnosis Detection of genetic disorders by DNA analysis ⅲ elt f t 100 bo RNA Cap site Unstable globin gure 11-15. Point mutations that cause B-thalassemia
Gene Diagnosis Detection of genetic disorders by DNA analysis