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Article: Prenatal diagnosis of common single gene disorders by DNA technology
Title | Prenatal diagnosis of common single gene disorders by DNA technology |
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Authors | |
Keywords | Prenatal diagnosis Carrier testing Genetic screening Heterozygote detection |
Issue Date | 1997 |
Publisher | Hong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org.hk |
Citation | Hong Kong Medical Journal, 1997, v. 3 n. 2, p. 173-178 How to Cite? |
Abstract | Using the new DNA technology, it is now possible to offer prenatal diagnosis or presymptomatic testing for many genetic diseases. For prenatal diagnosis, foetal tissue is obtained y chorionic villus sampling at 9 to 11 weeks gestation or amniocentesis at 18 weeks. The programme in Hong Kong, which started in 1982, is reviewed here and now included alpha and beta thalassaemia, haemophilia A and B, Duchenne muscular dystrophy, Huntington's diseases, and spinal muscular atrophy. DNA diagnosis can now be performed using a single cell obtained from pre-implantation embryos or from rare foetal cells isolated from maternal peripheral blood. The latter is safer and more acceptable to parents. Presymptomatic testing for untreatable diseases such as Hungtington's disease poses new ethical and social problems that need to be resolved. As many more genes are being discovered, prenatal diagnosis and presymptomatic testing programmes will continue to meet new challenges in the future. |
Persistent Identifier | http://hdl.handle.net/10722/45059 |
ISSN | 2023 Impact Factor: 3.1 2023 SCImago Journal Rankings: 0.261 |
DC Field | Value | Language |
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dc.contributor.author | Chan, VNY | en_HK |
dc.contributor.author | Chan, TK | en_HK |
dc.date.accessioned | 2007-10-30T06:16:35Z | - |
dc.date.available | 2007-10-30T06:16:35Z | - |
dc.date.issued | 1997 | en_HK |
dc.identifier.citation | Hong Kong Medical Journal, 1997, v. 3 n. 2, p. 173-178 | en_HK |
dc.identifier.issn | 1024-2708 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/45059 | - |
dc.description.abstract | Using the new DNA technology, it is now possible to offer prenatal diagnosis or presymptomatic testing for many genetic diseases. For prenatal diagnosis, foetal tissue is obtained y chorionic villus sampling at 9 to 11 weeks gestation or amniocentesis at 18 weeks. The programme in Hong Kong, which started in 1982, is reviewed here and now included alpha and beta thalassaemia, haemophilia A and B, Duchenne muscular dystrophy, Huntington's diseases, and spinal muscular atrophy. DNA diagnosis can now be performed using a single cell obtained from pre-implantation embryos or from rare foetal cells isolated from maternal peripheral blood. The latter is safer and more acceptable to parents. Presymptomatic testing for untreatable diseases such as Hungtington's disease poses new ethical and social problems that need to be resolved. As many more genes are being discovered, prenatal diagnosis and presymptomatic testing programmes will continue to meet new challenges in the future. | en_HK |
dc.format.extent | 388601 bytes | - |
dc.format.extent | 517067 bytes | - |
dc.format.mimetype | application/pdf | - |
dc.format.mimetype | application/pdf | - |
dc.language | eng | en_HK |
dc.publisher | Hong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org.hk | en_HK |
dc.subject | Prenatal diagnosis | en_HK |
dc.subject | Carrier testing | en_HK |
dc.subject | Genetic screening | en_HK |
dc.subject | Heterozygote detection | en_HK |
dc.title | Prenatal diagnosis of common single gene disorders by DNA technology | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=3&issue=2&spage=173&epage=178&date=1997&atitle=Prenatal+diagnosis+of+common+single+gene+disorders+by+DNA+technology | en_HK |
dc.description.nature | published_or_final_version | en_HK |
dc.identifier.pmid | 11850568 | en_HK |
dc.identifier.hkuros | 37185 | - |
dc.identifier.issnl | 1024-2708 | - |