ABSTRACT
OBJECTIVE@#To investigate the gene mutation types and gene carrying rate of common thalassemia in patients with thalassemia in Quanzhou, and to analyze its molecular epidemiological characteristics in Quanzhou.@*METHODS@#546 patients with thalassemia diagnosed at the first hospital of Quanzhou from January 2017 to October 2018 were collected and retrospectively analyzed for their types of mutations and carrier rates.@*RESULTS@#Among the 4226 samples submitted, 546 positive samples were detected, the total carrying rate of the thalassaemia genes was 12.92%; the carrier rate of α-thalassemia was 8.16%; the carrier rate of β-thalassemia was 4.76%; There were more α-thalassemia missing patients than non-deleted patients. The Southeast Asian deletion type (-- /αα) was the most common one, with a composition ratio of 68.98%, which was followed by 22.61% (-α/αα), 2.61% (αα/αα), and 2.32% (αα/αα), 2.32% (αα/αα), 1.16% (-α/αα); 9 types of β-thalassemia gene mutations were detected. The most common three mutations were IVSII-654 (C→T, 42.29%), CD41-42 (-TTCT, 33.83%), CD17 (A→T, 12.94%). 2 cases of --/αα , 1 case of αα/ααα and 1 case of HKαα were detected.@*CONCLUSION@#This study shows that the gene carrying rate of thalassemia in Quanzhou is high and has diversity, which can provide some reference for the prevention and control of thalassemia in Quanzhou.
Subject(s)
Humans , China , Genotype , Mutation , Retrospective Studies , alpha-Thalassemia , beta-ThalassemiaABSTRACT
<p><b>OBJECTIVE</b>To investigate the gene prevalence and spectrum of thalassemia in the women of childbearing age in quanzhou area.</p><p><b>METHODS</b>Venous blood of the women were collected for study, all subjects were registered in each county of quanzhou area by using cluster sampling. Both the mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were used for screening thalassemia．Genotyping of the screened positive samples was performed by gap single polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) hybridization．Unknown positive samples were analyzed with DNA sequencing.</p><p><b>RESULTS</b>Out of all 7 082 samples, Three hundred and eighty four were identified as thalassemia gene carriers with a carrying rate of 5.42 %. The α and β thalassemia were 3.21% and 2.15% respectively. -- /αα was the most common genotype with 68.72 % in mutation types of α thalassemia, In addition gene, 2 cases of --/αα and 1 case of αα/ααα were also detected. IVS-Ⅱ-654/N and CD41-42/N were the most common gentypes with 75.00 % in mutation types of β thalassemia gene, 5 cases were found to be α β compogite thalassemia.</p><p><b>CONCLUSION</b>The carrying rate of thalassemia gene in quanzhou area is higher, and with the most common gentypes including -- /αα、IVSⅡ-654(C→T)/N and CD41-42(-TTCT)/N. The study results are beneficial for the screening of thalassemia in the genetic consultation and the prenatal gene diagnosis.</p>
ABSTRACT
<p><b>BACKGROUND</b>The protective effects of magnesium sulfate against ischemia-reperfusion injury of the small intestine in Sprague-Dawley (SD) rats have been confirmed in our previous research. However, its exact mechanism is unclear. This study was to evaluate the role of PI3K/Akt signal pathway in the protective effect of magnesium sulfate against ischemia-reperfusion injury of the small intestine in SD rats.</p><p><b>METHODS</b>Rat model of intestinal ischemia-reperfusion injury was used. The SD rats were divided into four groups randomly: sham operation group, ischemia-reperfusion group, magnesium sulfate group and magnesium sulfate plus LY294002 (an inhibitor of PI3K) group. The pathological changes of intestinal mucosa were examined; the activity of diamine oxidase (DAO) in plasma, the plasma contents of malondialdehyde (MDA), and apoptosis rate of the intestinal mucosal cells were determined and compared. The expression of p-Akt was detected by Western blotting.</p><p><b>RESULTS</b>There were more evident pathological changes of the intestinal mucosa (higher Chiu's score, P < 0.05), enhanced DAO activity (P < 0.05), elevated contents of MDA (P < 0.05), higher apoptosis rate (P < 0.05), and lower level of p-Akt (P < 0.05) in the ischemia-reperfusion group compared with the sham operation group. There were less evident pathological changes of the intestinal mucosa (lower Chiu's score, P < 0.05), lower DAO activity (P < 0.05), lower contents of MDA (P < 0.05), and lower apoptosis rate (P < 0.05), but higher level of p-Akt (P < 0.05) in the magnesium sulfate group compared with the ischemia-reperfusion group. There were more evident pathological changes of the intestinal mucosa (higher Chiu's score, P < 0.05), higher contents of MDA (P < 0.05), higher DAO activity (P < 0.05) and higher apoptosis rate (P < 0.05), and lower level of p-Akt (P < 0.05) in the magnesium sulfate plus LY294002 group compared with the magnesium sulfate group.</p><p><b>CONCLUSIONS</b>Activation of PI3K/Akt signal pathway results in the reduction of cell apoptosis, which likely accounts for the protective effect of magnesium sulfate against intestinal ischemia-reperfusion injury.</p>