Pedigree Analysis *Mendelian inheritance Non-Mendelian inheritance Others 10
Pedigree Analysis ❖ Mendelian inheritance ❖ Non-Mendelian inheritance ❖ Others
Cytogenetics Fragile site *In situ hybridization 10R
Cytogenetics ❖ Fragile site ❖ In situ hybridization
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
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 Newborn Screening Phenylketonuria,PKU I Enzyme activity PAH Liver Blood sample Bacillus subtilis Guthrie test FeCl3 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 102 ↑Frameshint RNA png Nonsense codon Cap ste Unstable globin RNA cleavage ▣Small deletion 】Initator odon Figure 11-15.Point mutations that cause B-thalassemia
Gene Diagnosis Detection of genetic disorders by DNA analysis