《医学遗传学》课程PPT教学课件（留学生 Medical Genetics）10 chapter Diagnosis of the Hereditary Disease

Medical Genetics Diagnosis of the Hereditary Disease

Diagnosis of the Hereditary Disease Medical Genetics

Clinical Diagnosis History taking Physical examination Other examination *Pedigree analysis

Clinical Diagnosis ❖ History taking ❖ Physical examination ❖ Other examination ❖ Pedigree analysis

History Taking 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

❖ 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 Separately Specialists 100T

❖ Separately ❖ Specialists Physical Examination

Other Examination Clinical chemistry Radiology *Supersonics Karyotype analysis Molecular genetics

❖ Clinical chemistry ❖ Radiology ❖ Supersonics ❖ Karyotype analysis ❖ Molecular genetics Other Examination

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