Analysis of β-thalassemia gene testing results in western region of Guangxi Zhuang Autonomous Region / 中华地方病学杂志

Objective:To analyze the positive detection rate, main genotypes of β-thalassemia in western region of Guangxi Zhuang Autonomous Region (referred to as Guangxi).Methods:Retrospective analysis of 26 189 individuals who underwent gene testing for thalassemia at the Affiliated Hospital of Youjiang Medical University for Nationalities from January 2013 to December 2019. Using the crossing breakpoint PCR (Gap-PCR) and reverse dot blot (RDB) techniques to detect Chinese common type of 7 kinds of α-thalassemia and 17 kinds of β-thalassemia genotypes, high-throughput sequencing(Sanger) was performed for suspected rare β-thalassemia. Gap-PCR was used for suspected deletion β-thalassemia types.Results:β-thalassemia was diagnosed in 4 495 (17.16%) of 26 189 samples. A total of 6 177 alleles of 20 types of β-thalassemia were detected, mainly CD17 (2 712 cases, 43.90%) and CD41-42 (2 240 cases, 36.26%), including 7 rare alleles: Gγ +( Aγδβ) 0, SEA-HPFH, Hb New York, Hb G-Taipei, Hb Hezhou, Hb G-Coushatta and IVS-Ⅱ-81. There were 3 903 case (86.83%) heterozygous, 273 case (6.07%) double heterozygous, and 319 case (7.10%) homozygous among 4 495 β-thalassaemia subjects. A total of 48 genotypes were detected. The two most common genotypes were CD17/β N (1 890 cases, 42.05%) and CD41-42/β N (1 212 cases, 26.96%), accounted for 69.01% (3 102/4 495). Seven rare genotypes were detected: Gγ +( Aγδβ) 0/β N in 3 cases, Hb New York/β N in 3 cases, Hb G-Taipei/β N in 2 cases, SEA-HPFH/β N, Hb Hezhou/β N, Hb G-Coushatta/β N and IVS-Ⅱ-81/β N in 1 case each. A total of 1 041 cases (3.97%, 1 041/26 189) of 116 types of αβ-thalassemia were detected, mainly -- SEA/αα composite CD17/β N (144 cases, 13.83%), followed by -α 3.7/αα composite CD17/β N (112 cases, 10.76%). Conclusions:Western region of Guangxi is a high prevalence area of β-thalassemia, CD17/β N and CD41-42/β N are the main genotypes. The variation spectrum of β-thalassemia is complex and diverse, with rich genotype.

Study of the genotypic and hematological feature of hemoglobin H disease in West Guangxi area / 中华医学遗传学杂志

OBJECTIVE@#To analyze the incidence, genotype and hematological feature of hemoglobin H (HbH) disease in West Guangxi region.@*METHODS@#A total of 1246 patients diagnosed with HbH disease from January 2013 to December 2018 in our hospital were enrolled. Red blood cell parameters, hemoglobin electrophoresis, Gap-polymerase china reaction (Gap-PCR) and polymerase chain reaction-reverse dot blot (PCR-RDB) techniques were used to detect the 6 common α-thalassemia mutations and 17 common β-thalassemia mutations. The results were compared with those of other regions.@*RESULTS@#The detection rate for HbH disease was 5.66%. Among the 1246 patients, 614 (49.28%) had deletion-type HbH disease, including -α @*CONCLUSION@#The prevalence of HbH disease is high in West Guangxi region, and the main genotypeis non-deletion. α

Antiviral effect of hepatitis B virus S gene-specific anti-gene locked nucleic acid in transgenic mice / 中华肝脏病杂志

Objective@#To investigate the antiviral effect of hepatitis B virus (HBV) S gene-specific anti-gene locked nucleic acid (LNA) in transgenic mice.@*Methods@#A total of 30 HBV transgenic mice were randomly divided into blank control group (5% glucose + liposome), unrelated sequence control group, lamivudine control group, antisense LNA control group, and anti-gene LNA group, with 6 mice in each group. The mice in the lamivudine group were given lamivudine by gavage, and LNA was injected via the caudal vein. Quantitative real-time PCR was used to measure serum HBV DNA, ELISA was used to measure serum HBsAg, RT-PCR was used to measure HBV S mRNA level in the liver, and immunohistochemistry was used to measure the level of HBsAg in hepatocytes.@*Results@#At 3, 5, and 7 days after treatment, there were significant changes in the inhibition rates of HBV DNA (37.18%, 50.27%, and 61.46%, respectively) and HBsAg (30.17%, 44.00%, and 57.76%, respectively) achieved by anti-gene LNA (P < 0.01), and there were significant differences between the anti-gene LNA group and the other four control groups (P < 0.05). In the anti-gene LNA group, the relative mRNA expression of HBV S gene was 0.33 and the percentage of HBsAg-positive hepatocytes was 31%, which were significantly different from these two indices in the control groups (P < 0.05). There were no abnormal changes in liver/renal biochemical parameters and HE staining results.@*Conclusion@#Anti-gene LNA targeting at HBV S gene has a strong antiviral effect in transgenic mice, which provides theoretical and experimental bases for gene therapy for HBV.