Extinction of the phenotypic properties of the embryonal carcinoma (EC) cell parent is always observed in hybrids between EC cells and L fibroblasts. On the other hand, human beta-globin genes can be expressed when recombined to EC cell genome. We wanted to examine whether this ectopic expression would be extinguished when phenotypic changes are induced by cell hybridization. F9 transformants carrying the human beta-globin gene were hybridized with L fibroblasts. Human beta-globin transcripts were found in the two hybrid cell lines examined. Thus, the human beta-globin genes escaped extinction and behaved as genes involved in housekeeping functions.
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http://dx.doi.org/10.1016/0045-6039(84)90077-0 | DOI Listing |
Sci Rep
January 2025
International Joint Research Laboratory for Recombinant Pharmaceutical Protein Expression System of Henan, Xinxiang Medical University, Xinxiang, China.
To meet the requirements of the biopharmaceutical industry, improving the yield of recombination therapeutic protein (RTP) from Chinese hamster ovary (CHO) cells is necessary. The human cytomegalovirus (CMV) promoter is widely used for RTP expression in CHO cells. To further improve RTP production, we truncated the human CMV intron and further evaluated the effect of four synthetic introns, including ctEF-1α first, EF-1α first, chimeric, and β-globin introns combined with the CMV promoter on recombinant expression levels in transient and stably recombinant CHO cells.
View Article and Find Full Text PDFHematology
December 2025
Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, Thailand.
Background: Hemoglobin (Hb) Hekinan is a prevalent α-globin variant frequently missed in thalassemia screening centers using high-performance liquid chromatography (HPLC) or capillary electrophoresis. This study aims to investigate the hematological and molecular characteristics of Hb Hekinan in a large cohort.
Methods: Hb variants were identified using isoelectric focusing (IEF) and HPLC.
Int J Mol Sci
January 2025
Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, Nicosia 2371, Cyprus.
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive prenatal haplotyping (NIPH) assay for β-thalassaemia, utilizing cell-free DNA (cfDNA) from maternal plasma.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Laboratory of Medical Genetics, Clinical Pathology UOC, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.
Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.
Ann Clin Lab Sci
November 2024
Department of Internal Medicine, Hakuhokai Central Hospital, Hyogo, Japan
We present a patient with type 2 diabetes mellitus and a variant hemoglobin whose HbA1c levels were falsely elevated regardless of the measurement method [high-performance liquid chromatography (HPLC), enzymatic, and immuno-assay] used. The causes of the falsely high HbA1c levels in this patient were investigated. The patient was a 73-year-old man with frequent hypoglycemia on self-monitoring of blood glucose, whose HbA1c level when measured by HPLC (standard mode) and immunoassay was substantially higher than that predicted by continuous blood glucose monitoring or from the patient's glycated albumin level.
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