Sichuan Da Xue Xue Bao Yi Xue Ban
March 2021
Objective: To investigate the effect of acrolein on the proliferation of pulmonary epithelial cells and its possible mechanism.
Methods: Two strains of pulmonary epithelial cells, A549 cells and MLE15 cells, were used as models of pulmonary epithelial cell, and were treated with 80 μmol/L acrolein or phosphate buffer saline (PBS) as the control. The proliferation of pulmonary epithelial cells were determined with CCK-8 kit after cell culturing resumed for 12 h, 24 h, 36 h and 48 h post acrolein treatment, and the expression of period circadian regulator gene 1 ( 1) was examined using Western blot test 24 h after acrolein treatment.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
April 2012
Objective: To detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province.
Methods: Genomic DNA was extracted from peripheral blood samples of 14 family members. Based on 3 genes reported previously, PCR primers were designed and corresponding exons containing the mutation sites were amplified with PCR.
We identified and characterized a Chinese family with autosomal dominant Brachydactyly type B1 (BDB1). Linkage analysis revealed that the disease gene of the Chinese BDB1 family was linked to ROR2 locus. Mutational hot spot of ROR2 gene was amplified by polymerase chain reaction (PCR) and sequenced directly.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2010
Objective: To investigate the characteristics of the phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) in Henan province, China, in order for providing basic information for clinical genetic counseling and prenatal diagnosis.
Methods: All the exons and partial flanking introns of the PAH gene were detected by polymerase chain reaction (PCR) and bi-directional sequencing in 34 patients with PKU from Henan province.
Results: A total of 23 different disease-causing mutations were identified which corresponded to 92.