《医学遗传学 Medical Genetics》课程PPT教学课件（英文版）Diagnosis of the Hereditary Disease

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