国立阳明大学 遗传学研究所遗传谘询推广教育硕士学分班

1、國立陽明大學 遺傳學研究所遺傳諮詢推廣教育碩士學分班九十一學年度暑期 遺傳諮詢特論 授課進度表授課對象：遺傳諮詢推廣教育碩士學分班時間：每隔週五下午1:30-4:20地點：遺傳所專討室負責教師姓名：黃美智聯 絡 電 話 ：06-2353535*5032e-mail: .tw日期講題時數教師姓名（中文）7/47/188/18/158/299/12Counselee as an individual in a social contextTechniques of genetic counselingStructure of genetic counselingD

2、irective/Nondirective counseling for decision makingPrenatal diagnosis counselingPopulation screening counseling333333黃美智黃美智黃美智黃美智黃美智黃美智教科書名：Weil, J. (2000). Psychosocial genetic counseling. New York: Oxford University Press.國立陽明大學遺傳學研究所遺傳諮詢推廣教育碩士學分班九十一學年度 暑期 生化分子遺傳諮詢實驗室實習 授課進度表授課對象：遺傳諮詢推廣教育碩士學分班 時間

3、：每日9：00-18：00地點：榮總致德樓867室負責教師姓名：蕭廣仁聯 絡 電 話 ：2875-7401日期講題時數教師姓名（中文）7/77/87/97/107/117/147/15Urine test for high risk screening of metabolic acidosis1.FeCl3 test, DNPH test2.GC/MS1.Amino acid and acylcarnitine analysis by MS/MS2.Differenfial diagnosis of hyperphenylalaninemia: HPLC analysis of pterin

4、s metabolitesMolecular diagnosis of 6-pyruvoyl tetrahydropterin synthase (PTS) deficient hyperphenylalaninemia1.Genomic DNA isolation from blood2.PCR reaction3.Restriction fragments analysis4.PCR product purification and sequencing5.SSCP analysis6.STR genotyping for linkage analysis of PTS geneNewbo

5、rn screening for inborn error of metabolism1.Hyperphenylalaninemia2.Galactosemia3.Homocystinuria4.Glucose-6-phosphate dehydrogenase deficiency5.Congenital hypothyroidism6.Congenital adrenal hyperplasia7.Discussion8888888 蕭廣仁蕭廣仁蕭廣仁蕭廣仁蕭廣仁蕭廣仁蕭廣仁國立陽明大學 遺傳學研究所 遺傳諮詢推廣教育碩士學分班九十一學年度 暑期 細胞遺傳諮詢實驗室實習 授課進度表授課對象

6、：遺傳諮詢推廣教育碩士學分班時間：每日9：00-18：00地點： 遺傳所556室、實驗大樓107室負責教師姓名：陳燕彰聯 絡 電 話 ：2826-7000*5459日期講題時數教師姓名（中文）7/217/227/237/247/257/287/291.Introduction of peripherial lymphocyte culture2.Practice of lymphocyte culture1. Introduction of preparation of metaphase slide2. Practice of metaphase slide preparation1.Int

7、roduction of chromosome banding techniques2.Recognization of Human chromosomes3.Practice of banding chromosomes4. 1.Introduction of fluorescence in situ hybridization5.Preparation of FISH probe1.Harvest of lymphocyte culture2.Preparation of metaphase slide 3.Practice of FISH Hybridization1.Practice of G banding chromosomes2.Detection of FISH hybridization1.Photography of chromosomes under microscopy1.Kayotyping analysis2.Discussion8888888陳燕彰陳燕彰陳燕彰陳燕彰陳燕彰陳燕彰陳燕彰參考書：Human Chromosomes: Manual of Basic TechniquesRam S. Verma, Arvind Babu / Hardcover / McGraw-Hill Companies, July 2001Homan Cytogenet