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1.  Karyotypic and Molecular Genetic Changes Associated With Fetal Cardiovascular Abnormalities: Results of a Retrospective 4-Year Ultrasonic Diagnosis Study 
Objective: To investigate the incidence of aneuploidy in fetuses with congenital heart defects (CHDs) and to further identify submicroscopic changes and global DNA methylation levels as potential biomarkers in complex CHD cases.
Methods: Fetuses at high risk for birth defects or with obvious sonographic anomalies were recruited at the Prenatal Diagnosis Center and Ultrasonic Diagnosis Center. Elective fetal karyotyping and DNA copy number and promoter methylation analyses were carried out following parental consent. G-banded karyotyping was performed to detect fetal aneuploidy. Copy number variations (CNVs) were detected using the Affymetrix SNP Array 6.0 and validated by real time PCR. Global DNA methylation analyses were conducted using a Roche NimbleGen Human DNA Methylation 3x720K Array, and DNA methylation differences were assayed by a Sequenom MassARRAY EpiTYPER.
Results: Conventional karyotyping identified 30 cases with aneuploidy in 179 CHD fetuses. Various CNVs were found in two aneuploid fetuses and in five euploid CHD fetuses. Verified segmental deletion or duplications were not directly associated with cardiovascular malformations except in DAAM1 and GATA6. Verifiable aberrant DNA methylation could not be identified in three complex CHD fetuses.
Conclusions: In this study, Trisomy 18, Trisomy 21 and 45,XO were the most common aneuploidies identified in CHD fetuses. In the affected samples, only DAAM1 deletion and GATA6 amplification could be associated with cardiovascular biological processes.
doi:10.7150/ijbs.5404
PMCID: PMC3654495  PMID: 23678296
Congenital heart defect; Karyotyping; Copy number variants; Methylation level.
2.  The association between MTHFR 677C>T polymorphism and cervical cancer: evidence from a meta-analysis 
BMC Cancer  2012;12:467.
Background
MTHFR 677C>T polymorphism is a genetic alteration in an enzyme involved in folate metabolism, but its effect on host susceptibility to cervical cancer is still uncertain. The aim of this study was to investigate the association between MTHFR 677C>T polymorphism and cervical cancer by performing a meta-analysis.
Methods
Pubmed, Embase, Web of Science, and the Chinese Biomedical Database (CBM) databases were searched for case–control studies investigating the association between MTHFR 677C>T polymorphism and cervical cancer. Odds ratios (OR) and 95% confidence intervals (95%CI) were used to assess this possible association.
Results
11 studies with a total of 1898 cervical cancer cases and 2678 controls were included. Meta-analyses of a total 11 studies showed no association between MTHFR 677C>T polymorphism and cervical cancer using all five genetic models (All P values > 0.05). However, subgroup analyses showed the odds of the homozygous TT genotype were much less in cervical cancer cases than in controls in Europeans, which implied an association between the homozygous TT genotype and cervical cancer in Europeans (For TT versus CC, fixed-effects OR = 0.65, 95%CI 0.45-0.93, P = 0.020, I2 = 0.0%). The odds for the homozygous TT genotype were greater in cervical cancer cases than in controls in East Asians, which also implied an association between the homozygous TT genotype and cervical cancer in East Asians (For TT versus CC, random-effects OR = 1.66, 95%CI 1.05-2.62, P = 0.029, I2 = 52.6%; For TT versus CT/CC, random-effects OR = 1.55, 95%CI 1.09-2.22, P = 0.016, I2 = 42.4%). Both subgroup analyses and meta-regression analyses suggested ethnicity was the major source of heterogeneity. Publication bias was not evident.
Conclusions
This meta-analysis supports an association between MTHFR 677C>T polymorphism and cervical cancer, and the effect of this association may be race specific. Further studies with large sample sizes and careful design are needed to identify this association more comprehensively.
doi:10.1186/1471-2407-12-467
PMCID: PMC3583684  PMID: 23057736
MTHFR; Single nucleotide polymorphism; Cervical cancer; Meta-analysis
3.  Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report 
BMC Medical Genetics  2012;13:63.
Background
With an increasing incidence of congenital heart defects (CHDs) in recent years, genotype-phenotype correlation and array-based methods have contributed to the genome-wide analysis and understanding of genetic variations in the CHD population. Here, we report a copy number deletion of chromosomal 14q23.1 in a female fetus with complex congenital heart defects. This is the first description of DAAM1 gene deletion associated with congenital heart anomalies.
Case Presentation
Compared with the control population, one CHD fetus showed a unique copy number deletion of 14q23.1, a region that harbored DAAM1 and KIAA0666 genes.
Conclusions
Results suggest that the copy number deletion on chromosome 14q23.1 may be critical for cardiogenesis. However, the exact relationship and mechanism of how DAAM1 and KIAA0666 deletion contributes to the onset of CHD is yet to be determined.
doi:10.1186/1471-2350-13-63
PMCID: PMC3482563  PMID: 22857009
Congenital heart defect; Copy number deletion; DAAM1 gene
4.  A Novel CD105 Determination System Based on an Ultrasensitive Bioelectrochemical Strategy with Pt Nanoparticles 
Sensors (Basel, Switzerland)  2012;12(10):13471-13479.
CD105 is a well-known tumor metastasis marker and useful for early monitoring of metastasis and cancer relapse. It is important to generate rapid, reliable and precise analytical information regarding CD105 levels. To establish a simple, selective and sensitive detection method, we prepared an immunosensor with novel bioconjugates based on Pt nanoparticles, thionin acetate and antibodies. The proposed immunosensor displayed a broader linear response to CD105, with a working range of 1.3 to 200.0 ng/mL and a detection limit of 0.9 ng/mL under optimal conditions. Moreover, the studied immunosensor exhibited high sensitivity, fast analysis and adequate stability. The proposed methodology could readily be extended to other clinical- or environment-related biospecies.
doi:10.3390/s121013471
PMCID: PMC3545576  PMID: 23202005
CD105; immunosensor; nanomaterial
5.  Hypermethylation of IGSF4 gene for noninvasive prenatal diagnosis of thalassemia 
Summary
Background
For patients with pregnancy-induced thalassemia, fetal cord blood or amniotic fluid is invasively collected in the traditional diagnosis and prediction of thalassemia. However, there is no specific molecular target in the diagnosis of thalassemia using fetal DNA from the plasma of pregnant women.
Material/Methods
The promoter of cell surface adhesion molecule (IGSF4) gene was found to be down-regulated in patients with homozygous thalassemia, and the expression of IGSF4 was closely associated with the methylation of its promoter. In the present study, mass spectrometric sequencing of methylation was performed using MassARRAY to detect the 12 CpG sites in the promoter of IGSF4 gene.
Results
The methylation degree of these 12 CpG sites was significantly higher than that in healthy subjects (P<0.05). Hierarchical clustering was done in 23 patients with thalassemia and 5 healthy individuals. Results revealed the promoter of IGSF4 gene was highly methylated in thalassemia patients, which was dramatically different from that in healthy subjects (P<0.05). Methylation-specific PCR (MSP) was employed to confirm the methylation of the promoter of IGSF4 gene and results were consistence with those obtained in sequencing with MassARRAY. Real-time PCR showed, when compared with heterozygous subjects, the expression of IGSF4 was significantly down-regulated in thalassemia patients (ratio=0.18).
Conclusions
The expression of IGSF4 was closely related to the methylation of its promoter, suggesting the methylation of IGSF4 gene is tissue-specific for thalassemia. These findings provide evidence for the non-invasive prenatal diagnosis of thalassemia in terms of epigenetics.
doi:10.12659/MSM.882199
PMCID: PMC3560666  PMID: 22207107
thalassemia; DNA methylation; IGSF4; MassARRAY; noninvasive prenatal diagnosis

Results 1-5 (5)