Medical Genetics Diagnosis of the Hereditary Disease
Diagnosis of the Hereditary Disease Medical Genetics
Clinical Diagnosis 8 History taking Ph Lysical examination ☆ Other examination P eaigree analysis
Clinical Diagnosis ❖ History taking ❖ Physical examination ❖ Other examination ❖ Pedigree analysis
History Taking 令 Family history o Marital history: marriageable age, times of marriage, consanguineous marriage go Childbearing history: Childbearing Age, No of children, abortion fetal death pregnant history, exposure of teratogen, age of onset
❖ Family history ❖ Marital history: marriageable age, times of marriage, consanguineous Marriage ❖ Childbearing history: Childbearing Age, No of Children, abortion, fetal death, pregnant history, exposure of teratogen, age of onset History Taking
Physical Examination 令 Separately 冷 Specialists
❖ Separately ❖ Specialists Physical Examination
Other Examination o Clinical chemistry 令 Radiolog ☆ Supersonics Karyotype analysis ☆ Molecular genetics
❖ Clinical chemistry ❖ Radiology ❖ Supersonics ❖ Karyotype analysis ❖ Molecular genetics Other Examination
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