To explore a noninvasive method for diagnosis of SEA-thalassemia and to investigate whether the regional factors affect the accuracy of this method. The method involved using a public database and bioinformatics software to construct parental haplotypes for proband and predicting fetal genotypes using relative haplotype dosage. We screened and downloaded sequencing data of couples who were both SEA-thalassemia carriers from the China National Genebank public data platform, and matched the sequencing data format with that of the reference panel using Ubuntu system tools.
View Article and Find Full Text PDFBackground: Systemic lupus erythematosus (SLE) is a common autoimmune disease, and its pathogenesis remains unclear. The alteration of genetic materials is believed to play a role in SLE development. This study evaluated the association between the genetic variants of microRNA-21 (miR-21) and microRNA-155 (miR-155) and SLE.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2020
Objective: To analyze the incidence, genotype and hematological feature of hemoglobin H (HbH) disease in West Guangxi region.
Methods: A total of 1246 patients diagnosed with HbH disease from January 2013 to December 2018 in our hospital were enrolled. Red blood cell parameters, hemoglobin electrophoresis, Gap-polymerase china reaction (Gap-PCR) and polymerase chain reaction-reverse dot blot (PCR-RDB) techniques were used to detect the 6 common α-thalassemia mutations and 17 common β-thalassemia mutations.