13张咸宁-genetic diagnosis 2.pptVIP

Genetic Diagnosis-2: Practical 张咸宁 zhangxianning@ Tel Office: C303, Teaching Building 2014/11 Molecular Classification of Genetic Disease Disorders for which both the gene and mutation are known Disorders for which the gene is known, but not the mutation Disorders for which neither the gene nor the mutation is known Polygenic disorders Resources Gene Tests: American College of Medical Genetics: National Society of Genetic Counselors: OMIM: The journals: Molecular Diagnosis, Diagnostic Molecular Pathology, Journal of Molecular Diagnosis, Genetic Testing and Molecular Biomarkers, Prenatal Diagnosis, … GeneReviews Content Summary Diagnosis Clinical Description Differential Diagnosis Management Genetic Counseling Molecular Genetics Resources References Guthrie Test is a bacterial inhibition assay. β2-Thienylalanine（噻吩丙氨酸）is placed in the medium and normally causes the inhibition of Bacillus subtilis（枯草杆菌）growth. However, in the presence of excess of phenylalanine, this inhibition is overridden and bacterial growth occurs. This test is the least expensive screening method available for determining excess phenylalanine in the blood, but other tests are used to confirm findings. Prenatal Diagnosis（产前诊断） The use of tests during a pregnancy to determine whether an unborn child is affected with a particular disorder. Began in 1966. The Principal Indications for Prenatal Diagnosis by Invasive Testing 1. Advanced maternal age. 2. Previous child with a de novo chromosome abnormality. 3. Presence of structural chromosome abnormality in one of the parents. 4. Family history of a genetic disorder that may be diagnosed or ruled out by biochemical or DNA analysis. 5. Family history of an X-linked disorder for which there is no specific prenatal diagnostic test. 6. Risk of a neural tube defect (NTD). 7. Maternal serum screening and ultrasound. Methods of Noninvasive Testing in Prenatal Diagnosis ● Maternal serum alpha-fetoprotein ● Mate