Publications by authors named "Ying Tai Wang"
Article Synopsis
- Chromosomal abnormalities, particularly imbalanced translocations, are significant contributors to congenital and developmental anomalies, including intellectual disabilities and physical malformations in patients.
- In a study of four patients from three families, common symptoms included delayed growth, intellectual disability, and various physical deformities, with specific anomalies observed in individual patients, such as lower limb issues and congenital heart defects.
- Genetic analysis revealed specific chromosomal irregularities in each patient, confirming the presence of duplications and deletions that contributed to their conditions, demonstrating the crucial link between genotype and phenotype in these cases.
[Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
April 2013
Objective: To identify potential mutations of retinoschisis 1 (RS1) gene responsible for X-linked retinoschisis (XLRS) in two Chinese families.
Methods: The 6 exons and flanking intronic regions were analyzed with PCR and direct sequencing.
Results: Two RS1 mutations were identified in the two families, which included 1 frameshift mutation (c.
[Significance of detecting free DNA from maternal plasma for the diagnosis of fetal chromosomal aneuploidies].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2012
Objective: To determine the feasibility and accuracy of detecting numerical chromosomal abnormalities by high-flux sequencing analysis of free fetal DNA from maternal plasma.
Methods: High-flux sequencing was applied to analyze fetal chromosome sequence copy numbers in 153 pregnant women. Fetal karyotyping was also carried out on amniocentesis samples.
Background: Chromosome abnormalities, especially trisomy of chromosome 21, 13, or 18 as well as sex chromosome aneuploidy, are a well-established cause of pregnancy loss. Cultured cell karyotype analysis and FISH have been considered reliable detectors of fetal abnormality. However, results are usually not available for 3-4 days or more.
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- * DNA samples were collected from unrelated individuals and analyzed using advanced techniques, revealing 8 alleles and 19 genotypes with high heterozygosity.
- * Our findings suggest that the vWA locus is reliable for forensic investigations, supported by positive results from various biological samples like amniotic fluid and blood stains.
[Screening for chromosomal abnormalities using nuchal translucency measurement with materal serum biochemistry markers in first trimester].
Beijing Da Xue Xue Bao Yi Xue Ban
February 2005
Objective: To Investigate the performance of prenatal screening for chromosomal abnormalities in first trimester.
Methods: Maternal serum were collected from 2 739 pregnant women between 11 and 14 weeks gestation. Free beta human chorionic gonadotrophin(beta-hCG), pregnancy-associated plasma protein(PAPP-A) from materal serum were measured using time resolved fluorescence immunoassay(TRFIA) and fetal nuchal translucency(NT) thickness were measured using transabdominal or transvaginal ultrasound.
Article Synopsis
- The study analyzed allele frequencies of six short tandem repeat (STR) loci in the Han population of Henan province using DNA from blood samples, amplified through PCR, and examined via PAGE electrophoresis.
- Results indicated three alleles for F13A1, with F13A1 * 7 being the most common (45.2% frequency), and varying frequencies found for other loci such as F13B and D8S1179.
- High heterozygosities and adherence to Hardy-Weinberg equilibrium among the six loci suggest they are effective genetic markers for individual identification and paternity testing in forensic applications.
To increase the efficiency of in vitro transformation of human lymphocytes by Epstein-Barr virus (EBV) and establish permanent lymphoblastoid cell lines from patients with abnormal chromosome karyotype, B lymphoid cells were prepared from cryopreserved heparinized blood samples. The lymphoid cell pellet was resuspended with 0.5 ml medium of RPMI with 20% fetal calf serum(FCS), and added 2 ml virus-containing superatant of the EB virus-producing cell lines by filtrated, and mixed.
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