Publication in refereed journal
香港中文大学研究人员 ( 现职)
| 李?珊小姐 (化学病理学系) |
| 陈君赐教授 (化学病理学系) |
| 汤羽君博士 (化学病理学系) |
| 江培勇教授 (化学病理学系) |
| 郑昆瑜教授 (妇产科学系) |
| 梁德杨教授 (妇产科学系) |
| 卢煜明教授 (化学病理学系) |
| 赵慧君教授 (化学病理学系) |
全文
| 数位物件识别号 (DOI) ○○@http://aims.cuhk.edu.hk/converis/portal/Publication/10$@○○ 出版商提供的全文 ○○@http://aims.cuhk.edu.hk/converis/portal/Publication/1http://aims.cuhk.edu.hk/converis/portal/Publication/1$@○○ |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/1WOS source URL
其它资讯
摘要BACKGROUND: Researchers have developed approaches for the noninvasive prenatal testing of single gene diseases. One approach that allows for the noninvasive assessment of both maternally and paternally inherited mutations involves the analysis of single nucleotide polymorphisms (SNPs) in maternal plasma DNA with reference to parental haplotype information. In the past, parental haplotypes were resolved by complex experimental methods or inferential approaches, such as through the analysis of DNA from other affected family members. Recently, microfluidics-based linked-read sequencing technology has become available and allows the direct haplotype phasing of the whole genome rapidly. We explored the feasibility of applying this direct haplotyping technology in noninvasive prenatal testing.METHODS: We first resolved the haplotypes of parental genomes with the use of linked-read sequencing technology. Then, we identified SNPs within and flanking the genes of interest in maternal plasma DNA by targeted sequencing. Finally, we applied relative haplotype dosage analysis to deduce the mutation inheritance status of the fetus.RESULTS: Haplotype phasing and relative haplotype dosage analysis of http://aims.cuhk.edu.hk/converis/portal/Publication/12 out of http://aims.cuhk.edu.hk/converis/portal/Publication/13 families were successfully achieved. The mutational status of these http://aims.cuhk.edu.hk/converis/portal/Publication/12 fetuses was correctly classified.CONCLUSIONS: High-throughput linked-read sequencing followed by maternal plasma-based relative haplotype dosage analysis represents a streamlined approach for noninvasive prenatal testing of inherited single gene diseases. The approach bypasses the need for mutation specific assays and is not dependent on the availability of DNA from other affected family members. Thus, the approach is universally applicable to pregnancies at risk for the inheritance of a single gene disease. (C) 20http://aims.cuhk.edu.hk/converis/portal/Publication/16 American Association for Clinical Chemistry
着者Winnie W.I. Hui, Peiyong Jiang, Yu K. Tong, Wing-Shan Lee, Yvonne K.Y. Cheng, Maria I. New, Rezan A. Kadir, K.C. Allen Chan, Tak Y. Leung, Y.M. Dennis Lo, Rossa W.K. Chiu
期刊名称Clinical Chemistry
出版年份20http://aims.cuhk.edu.hk/converis/portal/Publication/17
月份2
卷号63
期次2
出版社AMER ASSOC CLINICAL CHEMISTRY
页次5http://aims.cuhk.edu.hk/converis/portal/Publication/13 - 524
国际标準期刊号0009-9http://aims.cuhk.edu.hk/converis/portal/Publication/147
电子国际标準期刊号http://aims.cuhk.edu.hk/converis/portal/Publication/1530-856http://aims.cuhk.edu.hk/converis/portal/Publication/1
语言英式英语
Web of Science 学科类别Medical Laboratory Technology;Medical Laboratory Technology
