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