| Title |
Epigenetic-Genetic Chromosome Dosage Approach for Fetal Trisomy 21 Detection Using an Autosomal Genetic Reference Marker
|
|---|---|
| Published in |
PLOS ONE, December 2010
|
| DOI | 10.1371/journal.pone.0015244 |
| Pubmed ID | |
| Authors |
Yu K. Tong, Rossa W. K. Chiu, Ranjit Akolekar, Tak Y. Leung, Tze K. Lau, Kypros H. Nicolaides, Y. M. Dennis Lo |
| Abstract |
The putative promoter of the holocarboxylase synthetase (HLCS) gene on chromosome 21 is hypermethylated in placental tissues and could be detected as a fetal-specific DNA marker in maternal plasma. Detection of fetal trisomy 21 (T21) has been demonstrated by an epigenetic-genetic chromosome dosage approach where the amount of hypermethylated HLCS in maternal plasma is normalized using a fetal genetic marker on the Y chromosome as a chromosome dosage reference marker. We explore if this method can be applied on both male and female fetuses with the use of a paternally-inherited fetal single nucleotide polymorphism (SNP) allele on a reference chromosome for chromosome dosage normalization. |
Mendeley readers
The data shown below were compiled from readership statistics for 72 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 1% |
| Russia | 1 | 1% |
| Ireland | 1 | 1% |
| Unknown | 69 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 14 | 19% |
| Student > Ph. D. Student | 12 | 17% |
| Student > Master | 10 | 14% |
| Student > Postgraduate | 7 | 10% |
| Other | 6 | 8% |
| Other | 8 | 11% |
| Unknown | 15 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 25 | 35% |
| Medicine and Dentistry | 12 | 17% |
| Biochemistry, Genetics and Molecular Biology | 11 | 15% |
| Psychology | 2 | 3% |
| Nursing and Health Professions | 1 | 1% |
| Other | 4 | 6% |
| Unknown | 17 | 24% |