Objective: To compare the gene dosage results achieved by a novel multiplex quantitative assay with cytogenetic and quantitative fluorescent polymerase chain reaction (QF-PCR) analysis for prenatal screening of trisomy 21 syndrome on corresponding fetal samples.
Design And Methods: Fetal samples (n=134) were collected from pregnant women considered high risk for having trisomy 21 affected fetus. Cytogenetic analysis and QF-PCR were performed. Then, the relative gene dosage of DSCAM and DYRK1A2 genes was determined on corresponding samples using comparative delta cycle of threshold (ΔC(T)) method.
Results: The mean gene dosage ratio was 1.55 ± 0.11 (95% CI:1.51-1.58) in trisomy 21 cases and 1.01 ± 0.12 (95% CI:0.98-1.03) in normal samples (p value<0.001). The results were in agreement to the results of cytogenetic and QF-PCR analysis with the overall specificity of 0.96 (95% CI:0.91-0.98) and the sensitivity of 0.80 (95% CI:0.49-0.94).
Conclusions: This gene dosage assay is appropriate for the screening of high risk pregnant women and is readily amenable to automation.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.clinbiochem.2011.11.013 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Moderate levels of folic acid benefit outcomes for cilia based neural tube defects.
Dev Biol
January 2025
Department of Molecular, Cellular and Development Biology, University of Colorado, Boulder, CO 80309. Electronic address:
Folic acid (FA) supplementation is a potent tool to reduce devastating birth defects known as neural tube defects (NTDs). Though effective, questions remain how FA achieves its protective effect and which gene mutations are sensitive to folic acid levels. We explore the relationship between FA dosage and NTD rates using NTD mouse models.
View Article and Find Full Text PDFKDM6A facilitates Xist upregulation at the onset of X inactivation.
Biol Sex Differ
January 2025
Department of Laboratory Medicine and Pathology, School of Medicine, University of Washington, Seattle, WA, 98195, USA.
Background: X chromosome inactivation (XCI) is a female-specific process in which one X chromosome is silenced to balance X-linked gene expression between the sexes. XCI is initiated in early development by upregulation of the lncRNA Xist on the future inactive X (Xi). A subset of X-linked genes escape silencing and thus have higher expression in females, suggesting female-specific functions.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Background: Women are disproportionately affected by Alzheimer's disease (AD) and exhibit greater AD neuropathology than men. Women possess two X chromosomes, with one randomly silenced across each cell for dosage compensation. X chromosome inactivation (XCI) is not complete, and XCI-escaping genes provide a promising avenue of discovery for biological pathways driving sex-specific AD risk.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
Stanford University, Stanford, CA, USA.
Background: APOE*4 is the strongest genetic risk for late-onset Alzheimer's disease (AD), but other genetic loci may counter its detrimental effect, providing therapeutic avenues. Expanding beyond non-Hispanic White subjects, we sought to additionally leverage genetic data from non-Hispanic and Hispanic subjects of admixed African ancestry to perform trans-ancestry APOE*4-stratified GWAS, anticipating that allele frequency differences across populations would boost power for gene discovery.
Method: Participants were ages 60+, of European (EU; ≥75%) or admixed African (AFR; ≥25%) ancestry, and diagnosed as cases or controls.
Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.
Background: Several studies have indicated sex-specific genetic risk for Alzheimer's disease (AD), but these were centered on non-Hispanic White individuals of European ancestry. We sought to identify sex-specific genetic variants for AD in non-Hispanic and Hispanic subjects of admixed African ancestry.
Method: Participants were ages 60+, of African ancestry (≥25%), and diagnosed as cases or controls.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!