Chin Med J (Taipei) 1998;61:S47.

Molecular Diagnosis for Genetic Diseases

Hsien-Hsiung Lee

Department of Obstetrics and Gynecology, Veterans General Hospital-Taipei,
Taipei, Taiwan 11217. R.O.C.

Abstract

Since the discovery of Polymerase Chain Reaction (PCR), where a single gene can be replicated, major breakthroughs have been achieved since gene analysis has been made easy, fast and precise. Therefore, the amplification of PCR for nucleic sequences becomes a powerful tool for diagnosis of diseases. With the rapid progress in identifying genes through the Human Genome project, we are likely to diagnose all genetic diseases within 10 years. The development of PCR technique makes a tiny specimen available for early diagnosis to directly detect the fault within the gene.

Our laboratory has undergone a nation-wide screening for alpha and beta thalassemia, the most common genetic disease of the children in Taiwan, to help couples avoid the risk of having a child with such disease. Patients with autosomal recessive disorder such as congenital adrenal hyperplasia and steroid 21-hydroxylase deficiency have also been evaluated for their genetic aberration and studies are still in progress. An intelligent method designed for extra-chromosome determination by way of homologous gene self-detection was used for the analysis of Trisomy 21. Great efforts have also been extended to other field of genetic diseases.

Improvement in the techniques of chorion villus sampling, has enabled the surgeon to obtain gestational tissue at the 8th to 9th week; therefore, DNA tests make it possible to identify the defective gene in the early stage of gestation. The early availability of tissue samples in addition to PCR-based techniques have allowed a fast and precise method of detecting all genetic diseases in the near future.

[Chin Med J (Taipei) 1998;61:S47.]