[Genotype Analysis of Common and Rare Thalassemia in People of Reproductive Age in Huadu District, Guangzhou].

Objective: To analyze the genotypes distribution of common and rare thalassemia in people of reproductive age in Huadu district of Guangzhou, enhance the database of thalassemia.

Methods: Peripheral blood samples were collected for genotype analysis in Maternity and Child Health Hospital of Huadu District from January 2016 to October 2022. Gap-PCR and Reverse dot blot hybridization were used to detect common thalassemia genotypes.

[Genotype and Phenotype of α-Thalassemia Fusion Gene in Huadu District of Guangzhou, Guangdong Province of China].

Objective: To explore the carrier rate, genotype and phenotype of α-thalassemia fusion gene in Huadu district of Guangzhou, Guangdong province of China, and provide data reference for the prevention and control of thalassemia.

Methods: A total of 10 769 samples who were screened for thalassemia in Maternal and Child Health Hospital of Huadu District from July 2019 to November 2020 were analyzed retrospectively. Blood cell analysis and hemoglobin (Hb) electrophoresis were performed.

Hb Huadu [α124(H7)Ser→Thr (CC>CC), : c.373T>A]: A Novel Variant of the α-Globin Gene.

Here, we report a novel α chain hemoglobin (Hb) variant found during routine thalassemia screening. This Hb variant can be detected by capillary electrophoresis (CE) but cannot be recognized by high performance liquid chromatography (HPLC). Sanger sequencing revealed a heterozygous missense substitution at nucleotide 373 on the gene, which results in the replacement of serine by threonine at codon 124 [α124(H7)Ser→Thr (CC>CC), : c.

[Molecular Epidemiological Characteristics and Differential Diagnosis of Common δβ-Thalassemia/HPFH].

Objective: To investigate the molecular epidemiological characteristics of common δβ-thalassemia/hereditary persistence of fetal hemoglobin(HPFH) in the prepregnant population in Huadu, and to provide a laboratory basis for prevention and control of thalassemia.

Methods: Blood samples of childbearing age people in Huadu District of Guangzhou who participated in free thalassemia testing from January 2016 to July 2021 were collected for hematological parameters analysis and hemoglobin electrophoresis. Chinese γ(γδβ)-thalassemia, -HPFH and Taiwanese deletion β-thalassemia were detected by Gap-PCR in the samples with higher HbF(≥5%).

Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing.

Gap- polymerase chain reaction (PCR), reverse dot-blot assay (RDB), real-time PCR based multicolor melting curve analysis (MMCA assay), multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing are conventional methods to diagnose thalassemia but all of them have limitations. In this study, we applied single-molecule real-time (SMRT) sequencing following multiplex long-range PCR to uncover rare mutations in nine patients and their family members. The patients with different results between Gap-PCR and MMCA assay or with phenotype not matching genotype were included.

Hb Westmead (: c.369C>G): Hematological Characteristics in Heterozygotes with and without α-Thalassemia.

Hb Westmead (α122(H5)His>Gln) (: c.369C>G) is a common α-globin variant causing α-thalassemia (α-thal) in Mainland China. In this study, we report the hematological characteristics in Hb Westmead carriers in a Chinese population.

[Construction of RevS gene knock-out mutant of Streptococcus suis serotype 2].

Objective: To construct a gene knock-out mutant of response regulator named RevS in Streptococcus suis serotype 2 virulent strain 05ZYH33, and to investigate the effects of its deletion on the biological characters of this pathogen and the pathogenesis to mice and piglets.

Methods: Recombinant gene knock-out vector consisting of Spc(r) cassette was constructed and flanking was constructed consisting of Spc(r) cassette with flanking homology regions to the RevS genes while the isogenic RevS-deficient mutant was screened by allelic replacement. The effects of RevS deletion on the basic biological characters of 05ZYH33 including growth stability, colonial morphology, haemolysis, Gram staining, growth curve and protein expression were examined in vitro.

[Study on molecular epidemiology of major pathogenic Streptococcus suis serotypes in middle part of Jiangsu province].

Objective: To determine the prevalence of Streptococcus suis and major pathogenic serotypes in middle part of Jiangsu province.

Methods: Tonsillar specimens from 303 slaughtered pigs aged 6 to 8 months were investigated for the presence of Streptococcus suis and major pathogenic serotypes by polymerase chain reaction (PCR) method. Bacteriological examination compared with molecular genetics identification for three Streptococcus suis isolates were also done.

Existence and characterization of allelic variants of Sao, a newly identified surface protein from Streptococcus suis.

Surface antigen one (Sao) is a newly identified protein from the major zoonotic pathogen, Streptococcus suis. In search of functional proteins related to the pathogenesis of Chinese S. suis 2 (SS2), unexpectedly, a variant of Sao protein was obtained.

[Clinical results of advanced gastric cancer patients treated with oxaliplatin-containing regimen].

Background & Objective: In vitro clinical research showed oxaliplatin (L-OHP) could obviously suppress the growth of gastric cancer cells in combination with most anti-cancer drugs and help these drugs to kill the tumor cells. This study was designed to evaluate the response and tolerance of oxaliplatin,leucovorin (LV), 5-fluorouracil (5-FU),and etoposide (VP-16) as first-line regimen in advanced gastric cancer, and compare with traditional chemotherapy regimen.

Methods: Forty-eight patients with advanced gastric cancer were divided into treatment group (L-OHP+LV+5-FU+VP-16) and control group(DDP+LV+5-FU+VP-16) using non-randomized method.