With the completion of human genome sequencing, human genetics is poised for major developments in functional genomics, molecular diagnostics, pathogenesis of complex multifactorial diseases and gene-based therapy. This book includes manuscripts from an international symposium on human genetics and gene therapy as well as articles written by a selection of young researchers in the Asia Pacific region who are actively involved in a diverse range of medical problems, including cancers, infections, hypertension and myopia. New technologies being developed in gene therapy, lab-on-chips and bioinformatics are reported. The book provides a snapshot of the diverse approaches and solutions being developed at the frontiers of human genetics. It should be useful to researchers and students in molecular genetics and the life sciences, professionals in the biotechnology and pharmaceutical industries, as well as clinicians who are interested in molecular medicine and gene therapy.
Author(s): International Symposium on Human Genetics and Gene Therapy (1999 : Singapore), Eric P. H. Yap, Lai Poh San, Poh San Lai, Nihon Gakujutsu Shinkokai
Publisher: World Scientific Publishing Company
Year: 2001
Language: English
Pages: 422
COVER......Page 1
FRONTIERS IN HUMAN GENETICS DISEASES AND TECHNOLOGIES......Page 3
CONTENTS......Page 21
LIST OF CORRESPONDING AUTHORS......Page 7
FOREWORD......Page 15
PREFACE......Page 17
I. EMERGING TECHNOLOGIES......Page 27
1. FISH for the Obstetrician and Gynaecologist: A Rapid and Reliable Tool Aiding Clinical Analysis......Page 29
2. In silico Detection and PCR Confirmation of Novel Single Nucleotide Polymorphism (SNP) in Tissue Inhibitor of Matrix Metalloproteinase-2 (TIMP-2)......Page 45
3. A Novel Method of Genotyping Single Nucleotide Polymorphisms (SNP) Using Melt Curve Analysis on a Capillary Thermocycler......Page 63
4. BioMEMs/“Lab-on-a-Chip”: Towards a Cheaper, More Rapid, Portable and ‘Automated’ High-Throughput Genotyping......Page 79
5. Silico Biotech......Page 99
6. Bioinformatics Integration Simplified: The Kleisli Way......Page 105
7. Issues in Secondary Structure Prediction Quality......Page 117
II. GENES & DISEASES......Page 125
8. An Integrative Approach to the Identification and Characterisation of Human SNARE GS27......Page 127
9. The Identification of SRY Gene as a Clinical Investigative Tool for Sex Ambiguity: An Experience in H.U.S.M.......Page 137
10. G6PD Deficiency and Application of the MPTP Technique......Page 147
11. Glucose-6-Phosphate-Dehydrogenase (G6PD) Deficiency: Preliminary Report of the Multiplex PCR Tandem Forward Primers (MPTP) for Indonesian Yogyakarta Cases......Page 165
12. Congenital Adrenal Hyperplasia: A Review of 13 Cases Detected by Newborn Screening......Page 177
13. Analysis of Deletion Breakpoints in Dystrophin Transcripts......Page 185
14. Confirmation of Predicted Mutational Effect by In Vitro Protein Translation in a Patient with Duchenne Muscular Dystrophy......Page 199
15. Maple Syrup Urine Disease: A Report of 26 Cases in the Philippines......Page 211
16. The Heterogeneity of Thalassemia in Southeast Asia......Page 221
17. Linkage Analysis of Mesomelic Dysplasia, Kantaputra Type......Page 231
18. Genetics and Susceptibility to Tuberculosis: A Review......Page 245
19. Loss of Heterozygosity of the Chromosomal Region 11q22-q23 in Primary Tumours of the Central Nervous System......Page 251
20. Identification of RB1 Gene Mutations with Constitutional Origin......Page 259
21. Molecular and Clinical Profiles of Singapore Familial Adenomatous Polyposis Patients......Page 271
22. Linkage of Dopamine Receptor D2 (DRD2) Markers with Essential Hypertension in Singaporean Chinese Subjects......Page 287
III. GENE THERAPY......Page 299
23. Molecular Medicine — Potential Therapies for Genetic Diseases......Page 301
24. Development of HVJ-Liposomes and Cancer Gene Therapy......Page 313
25. Current Status of Development to Improve the Efficiency and Targeting Specificity of Liposomes for Gene Therapy......Page 327
26. Naked Plasmids: Muscling into Gene Transfer......Page 349
27. Antisense Oligonucleotides as a Therapy for Duchenne Muscular Dystrophy......Page 361
28. Treatment of Duchenne Muscular Dystrophy at the mRNA Level......Page 373
29. Strategy of Gene Therapy for Liver Cirrhosis and Liver Cancer......Page 383
30. Gene Therapy for Prostate Cancer; Development of Tissue Specific Promoter-Based Gene Therapy......Page 389
IV ABSTRACTS......Page 403
