Objective: To analyze the sequence of a novel human leukocyte antigen (HLA)-A*33:44 allele.
Methods: A novel HLA-A allele was found by double-stranded sequencing combined with single-stranded sequencing. The frequency of the novel allele was determined by population survey.
Results: Genomic sequence of this novel HLA-A*33:44 allele (accession No. HQ873871) has differed from HLA-B*33:03:01 by one nucleotide in exon 4, which resulted in nt 866 G→ A substitution, which results in an amino acid substitution from Gly(GGT) to Asp(GAT) at codon 265. This alternation is a new single nucleotide polymorphism compared with other HLA-A alleles. The frequency of this new allele is less than 0.0003 in Chinese Han population.
Conclusion: A mutation has been found in exon 4 of the novel HLA-A*33:44 allele, which may provide more information for HLA gene study.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2014.01.020 | DOI Listing |
Adv Clin Chem
January 2025
School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul, Republic of Korea; Department of Integrated Biomedical and Life Science, Korea University, Seoul, Republic of Korea; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, Republic of Korea; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, Republic of Korea. Electronic address:
The advent of multiomics has ushered in a new era of cancer research characterized by integrated genomic, transcriptomic and proteomic analysis to unravel the complexities of cancer biology and facilitate the discovery of novel biomarkers. This chapter provides a comprehensive overview of the concept of multiomics, detailing the significant advances in the underlying technologies and their contributions to our understanding of cancer. It delves into the evolution of genomics and transcriptomics, breakthroughs in proteomics, and overarching progress in multiomic methodologies, highlighting their collective impact on cancer biomarker discovery.
View Article and Find Full Text PDFAdv Clin Chem
January 2025
Center for Orphan Drug Research, Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN, United States. Electronic address:
Gaucher disease (GD) is a rare lysosomal disorder characterized by the accumulation of glycosphingolipids in macrophages resulting from glucocerebrosidase (GCase) deficiency. The accumulation of toxic substrates, which causes the hallmark symptoms of GD, is dependent on the extent of enzyme dysfunction. Accordingly, three distinct subtypes have been recognized, with type 1 GD (GD1) as the common and milder form, while types 2 (GD2) and 3 (GD3) are categorized as neuronopathic and severe.
View Article and Find Full Text PDFJ Steroid Biochem Mol Biol
January 2025
Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA; Department of Medicine, VA Medical Center, St. Louis, MO, USA; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO, USA. Electronic address:
Targeting optimal glycemic control based on hemoglobin A1c (A1c) values reduces but does not abolish the onset of diabetic kidney disease and its progression to chronic kidney disease (CKD). This suggests that factors other than the average glucose contribute to the residual risk. Vitamin D deficiency and frequent episodes of acute hyperglycemia (AH) are associated with the onset of albuminuria and CKD progression in diabetes.
View Article and Find Full Text PDFLife Sci
January 2025
Department of Laboratory Medicine, Guangdong Provincial Key Laboratory of Precision Medical Diagnostics, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China. Electronic address:
The dysfunction of the endothelial lining in lesion-prone areas of the arterial vasculature significantly contributes to the pathobiology of atherosclerotic cardiovascular disease. Recent studies suggested that UDP-glucose pyrophosphorylase 2 (UGP2) plays a role in cell proliferation and survival. This study investigates the anti-apoptotic and anti-atherogenic effects of UGP2 both in vitro and in vivo.
View Article and Find Full Text PDFStructure
January 2025
Department of Chemistry, Purdue University, West Lafayette, IN 47907, USA. Electronic address:
High-risk human papillomavirus E6 oncoprotein is a model system for the recognition and degradation of cellular p53 tumor suppressor protein. There remains a gap in the understanding of the ubiquitin transfer reaction, including placement of the E6AP catalytic HECT domain of the ligase concerning the p53 substrate and how E6 itself is protected from ubiquitination. We determined the cryoelectron microscopy (cryo-EM) structure of the E6AP/E6/p53 complex, related the structure to in vivo modeling of the tri-molecular complex, and identified structural interactions associated with activation of the ubiquitin ligase function.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!