Characterization of a novel allele harboring a c.28 + 5G>A mutation on the background: a study utilizing PacBio third-generation sequencing and functional assays.

Background: Mutations in the ABO gene, including base insertions, deletions, substitutions, and splicing errors, can result in blood group subgroups associated with the quantity and quality of blood group antigens. Here, we employed third-generation PacBio sequencing to uncover a novel allele arising from an intron splice site mutation, which altered the expected A phenotype to manifest as an Ael phenotype. The study aimed to characterize the molecular mechanism underlying this phenotypic switch.

RHC genotyping in Chinese Han population.

Background: The Rh blood group system is characterized by its complexity and polymorphism, encompassing 56 different antigens. Accurately predicting the presence of the C antigen using genotyping methods has been challenging. The objective of this study was to evaluate the accuracy of various genotyping methods for predicting the Rh C and to identify a suitable method for the Chinese Han population.

Novel missense mutation c.797T>C (p.Met266Thr) gives rise to the rare B(A) phenotype in a Chinese family.

Background And Objectives: B(A) phenotype is usually formed by nucleotide mutations in the ABO*B.01 allele, with their products exhibiting glycosyltransferases (GTs) A and B overlapping functionality. We herein report a B(A) allele found in a Chinese family.

Polymorphisms in the promoter regions of RHD and RHCE genes in the Chinese Han population.

Background And Objectives: The Rh blood group system is the most polymorphic human blood group system. Previous studies have investigated variants in the RHD and RHCE promoter. The relevance of these variants to the Chinese Han population is further clarified in this study.

Association between the Genetic Polymorphisms of , and with Chronic Hepatitis C Virus Infection in the Chinese Han Population.

Hepatitis C virus (HCV) infection is a global public health burden. Chronic HCV infection leads to the development of fibrosis, cirrhosis, liver cancer, and liver failure over time. A total of 250 patients with chronic HCV infection and 299 healthy blood donors were recruited.

Association between the polymorphism of HLA and ESRD in Dalian Han population located in north of China.

Background: End-stage renal disease (ESRD), the last stage of chronic renal failure, is a global health problem. The number of ESRD patients worldwide is increasing faster than the number of kidneys available per year for renal transplantation. Most of the ESRD patients are awaiting renal transplantation.

Atypical Chemokine Receptor 1 polymorphism cannot be used as an indicator of liver fibrosis progression in Hepatitis C virus positive patients.

Background & Objective: Atypical chemokine receptor 1(ACKR1) represents an atypical chemokine receptor that can bind promiscuously to various chemokines. Chemokines play a crucial role to recruit leukocyte subsets migration through the endothelium and into liver against the virus during the progression of hepatitis C virus (HCV) infection. Most HCV positive patients can lead to liver fibrosis.

Atypical Chemokine Receptor 1 Polymorphism can not Affect Susceptibility to Hepatitis C Virus.

Background: Hepatitis C virus has infected 130 to 150 million individuals globally. Atypical chemokine receptor 1 has become a focus of research because of its diverse roles in different diseases. However, little is known regarding the association of atypical chemokine receptor 1 polymorphism with susceptibility to hepatitis C virus.