Publication in refereed journal
香港中文大学研究人员 ( 现职)
| 卢煜明教授 (化学病理学系) |
| 周菁琦女士 (化学病理学系) |
| 梁子昂教授 (妇产科学系) |
| 刘子建教授 (妇产科学系) |
| 赵慧君教授 (化学病理学系) |
全文
| 数位物件识别号 (DOI) http://dx.doi.org/10.1016/S0140-6736(02)11086-5 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/161WOS source URL
其它资讯
摘要The discovery of the presence of fetal DNA in maternal plasma has provided a new approach for non-Invasive prenatal diagnosis. At present, the prenatal diagnosis of beta thalassaemia relies on invasive methods. We designed allele-specific primers and a fluorescent probe for detection of the codon 41/42 (-CTTT) mutation in the beta globin gene from maternal plasma by real-time PCR. The specificity and sensitivity of the allele-specific assay was confirmed by subjecting plasma, buffy coat, and amniotic fluid samples from 100 pregnancies to screening for the mutation. Subsequently, the assay was applied to the prenatal testing of eight fetuses at risk of beta thalassaemia major, the aim being to exclude fetal inheritance of paternally transmitted codon 41/42 mutation. The fetal genotype was completely concordant with conventional analysis and beta thalassaemia major was excluded in two of the pregnancies non-invasively.
着者Chiu RWK, Lau TK, Leung TN, Chow KCK, Chui DHK, Lo YMD
期刊名称Lancet
出版年份2002
月份9
日期28
卷号360
期次9338
出版社LANCET LTD
页次998 - 1000
国际标準期刊号0140-6736
电子国际标準期刊号1474-547X
语言英式英语
Web of Science 学科类别General & Internal Medicine; Medicine, General & Internal; MEDICINE, GENERAL & INTERNAL
