Identification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing.

This study presents the hematological and genetic analysis of a child with severe β-thalassemia harboring triple heterozygous mutations. The child, diagnosed with anemia at the age of 1 year, became transfusion-dependent and maintained a hemoglobin level of 72.00-84.

[The impact and clinical implication of variants in the start codon of HBA gene on the phenotype of thalassemia].

Objective: To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia.

Methods: A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd.

Hb Phnom Penh: clinical characteristics analysis and literature review.

Objective: To summarize and analyze the clinical characteristics of the Hb Phnom Penh (:c.354_355insATC) variant in the Chinese population, and to guide clinical diagnosis and genetic counseling for hemoglobin disorders.

Methods: Peripheral blood samples were collected from patients, and hematological parameters, hemoglobin electrophoresis, and glycated hemoglobin chromatography were analyzed.

:c.96-2A > G mutation: report of 7 cases in China.

Objective: To analyze the hematological phenotype and genotype of : c.96-2A > G carriers.

Methods: The blood routine parameters and hemoglobin electrophoresis of rare cases were analyzed and identified by PCR combined with reverse dot blot (RBD-PCR), GAP-PCR and DNA sequencing.

Phenotypic Analysis of the : C.95 G > A Mutation in China.

This study aimed to analyze the clinical phenotype of the : c.95G>A mutation in the Chinese population and to provide guidance for clinical diagnosis and genetic counseling. Peripheral blood samples were collected from 16 patients, including 6 newborns, 2 children, and 8 adults.

The gene spectrum of thalassemia in Yangjiang of western Guangdong Province.

Thalassemia presents a higher incidence in southern China. The objective of this study is to analyze the genotype distribution of thalassemia in Yangjiang, a western city of Guangdong Province in China. The genotypes of suspected cases with thalassemia were tested by PCR and reverse dot blot (RDB).

Clinical validation of a single-tube PCR and reverse dot blot assay for detection of common α-thalassaemia and β-thalassaemia in Chinese.

Objective: To evaluate a novel reverse dot blot assay for the simultaneous detection six types of common α-thalassaemia alleles (three deletional and three common non-deletional mutations) and 19 types of common β-thalassaemia alleles in a Chinese population.

Methods: Genomic DNA samples were collected from three hospitals in southern China. The novel thalassaemia gene assay involved one multiplex polymerase chain reaction amplification system and one round of hybridization.

Comparative Performance of Four Nucleic Acid Amplification Tests for SARS-CoV-2 Virus.

Background: COVID-19 is caused by the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2), which was discovered in 2019 and spread around the world in a short time. SARS-CoV-2 nucleic acid amplification tests (NAATs) have been rapidly developed and quickly applied to clinical testing of COVID-19. Aim of this study was to evaluate the performance of four NAAT assays.

MicroRNA-100 promotes the autophagy of hepatocellular carcinoma cells by inhibiting the expression of mTOR and IGF-1R.

We found that restoration of miR-100 expression resulted in accumulation of LC3B-II and decrease of p62 in hepatocellular carcinoma (HCC) cells, whereas antagonism of miR-100 reduced the level of LC3B-II. Moreover, a significant correlation between miR-100 downregulation and p62 upregulation was observed in human HCC tissues, suggesting an autophagy-promoting effect of miR-100. Subsequent investigations disclosed that knockdown of Atg7 but not Beclin-1 attenuated the miR-100-induced LC3B-II elevation.

MicroRNA-195 suppresses tumorigenicity and regulates G1/S transition of human hepatocellular carcinoma cells.

Unlabelled: Growing evidence indicates that deregulation of microRNAs (miRNAs) contributes to tumorigenesis. Down-regulation of miR-195 has been observed in various types of cancers. However, the biological function of miR-195 is still largely unknown.

A functional polymorphism in the miR-146a gene is associated with the risk for hepatocellular carcinoma.

A G > C polymorphism (rs2910164) is located in the stem region opposite to the mature miR-146a sequence, which results in a change from G:U pair to C:U mismatch in the stem structure of miR-146a precursor. Here, we elucidated the biological significance of this polymorphism, based on cancer association study and cell model system. The cancer association study included 479 hepatocellular carcinoma (HCC) and 504 control subjects.

Analysis of sequence variations in 59 microRNAs in hepatocellular carcinomas.

It is well demonstrated that mutations in protein-coding genes play a key role during carcinogenesis. Whether sequence variations in microRNA genes are also associated with tumorigenesis is still unknown and thus require extensive investigations. In the present study, genomic sequences coding for the precursors of 59 microRNA genes were analyzed in both hepatocellular carcinoma (HCC) tissues and liver cancer derived cell lines.