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Objective To analyze the coincidence of the patients with capillary electrophoresis hemoglobin A 2 increase with defi-nitely diagnosed beta thalassaemia and to investigate its application value in the diagnosis of beta thalassaemia.Methods Two hundreds and sixty outpatients and inpatients with hemoglobin A 2 increase in our hospital from May 2014 to May 2015 were per-formed the genetic testing.Results Among 260 patients with hemoglobin A2 increase ,beta thalassemia gene mutations were detec-ted in 257 cases ,the coincidence rate reached 98.85% ,and the common 17 beta thalassemia gene mutations were not detected in the other 3 cases ,follow-up further detection of rare beta thalassaemia gene and beta globin gene sequencing was performed ,1 case of SEA-HPFH βdeletion type was found ,1 case was Taiwaneseβdeletion type and 1 case was Codon 89-93(-AGT GAG CTG CAC TG) heterozygous mutation ,it was verified that 3 cases of hemoglobin A2 increase without detecting 17 kinds of common beta thalassemia gene mutations were still beta chain mutation occurrence or big fragment deletion.At the same time ,among 257 speci-mens of beta thalassemia gene mutations ,42 cases were compound alpha thalassaemia ,accounting for 16.34% of beta thalassaemia. Conclusion Capillary electrophoresis hemoglobin A2 increase can provide a fast and accurate basis for beta thalassemia diagnosis , but which can not rule out the possibility of compoound alpha thalassaemia ,when the patient's hemoglobin A2 is increased ,alpha and beta thalassaemia genetic diagnosis should be simultaneously carried out.
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Objective To analyze the molecular epidemiology characteristic of neonatal deafness susceptibility genes .Methods Hearing screening and deafness susceptibility genes screening were performed in 1 674 cases of newborn to analyze the epidemiolog‐ical characteristics .Results Among 1 674 cases of neonatus ,37 cases were with deafness susceptibility gene abnormalities ,inclu‐ding 2 cases of 176 del 16 mutations ,5 cases of 299 del AT heterozygous mutation ,16 cases of 235 del C mutation ,9 cases of IVS7‐2A>G heterozygous mutations ,1 case of 2168A> G mutation ,2 cases of 538C> T heterozygous mutation ,2 cases of 1494C> T mutation ,and the positive rate was 2 .21% .Conclusion Hearing screening combined with deafness susceptibility gene screening could detect possible hearing loss children from molecular level ,providing favorable reference for the early detection ,predict and in‐terventions .
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Objective To systematically analyze and evaluate the association between the peptidylarginine deiminaseⅣ(PADI4) gene and rheumatoid arthritis (RA) based on the published data,and to provide evidence for the pathogenesis of RA.Methods By selecting five SNPs in PADI4 (rs11203366,rs11203367,rs874881,rs2240340,rs1748033) which had been extensively examined.Meta-analysis on each SNP was performed step by step according to Hugenet manual to investigate the association of the polymorphisms of the PADI4 gene with RA.Results This Meta-analysis enrolled 15 659 RA patients and 22 019 healthy controls from 21 studies worldwide.It demonstrated that rs11203366,rs11203367,rs2240340 and rs 1748033 confered susceptibility to RA in Asian ethnicity (P＜0.01,0.03,＜0.01,＜0.01),while rsl1203366,rsl1203367 and rs874881 confered susceptibility to RA in Caucasian of European ancestry (P=0.0002,0.004,0.03).It also shown that no significant association between rs874881 and RA in the Asian ethnicity populations (P=0.2),or rs2240340,rs1748033 and RA in Caucasian of European ancestry (P=0.18,0.1 ).A linkage disequilibrium study was also performed.The LD study showed that rs11203366,rs11203367,rs874881,rs2240340 and rs1748033 were in linkage disequilibrium both in the Asian ethnicity and Caucasian,which was basically inconsistent with the results of Meta-analysis.The conflicting results should be explained by many aspects such as bias in sample selection,genotyping,and the stratification.Conclusion The PADI4 genotype is partially associated with RA,and the underling mechanisms need further study.Haplotype based research and Metaanalysis would be valuable.
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Objective To study the toxic effect of glufosinate-ammonium on the liver. Methods SD rats aged 6 weeks with weight of 140-160 g were randomly divided into four groups, 20 (10 males and 10 females) in each group. The rats were treated for three months by gavaging different doses of glufosinate-ammonium (0, 100, 250, 500 mg/kg bw) for the experimental group and 2% Tween-80 solution for the control group. All the rats were weighted once a week. The activity of alanine aminotransferase (ALT), aspartate aminotransferase (AST) and alkaline phosphatase (ALP) in the serum were determined at the end of the study. Liver weight was measured and liver index was calculated. Pathological examination was performed. Results Treated with high-dose of glufosinate-ammonium, a retarded growth of rats was seen, the activity of ALT, AST and ALP increased significantly in both male and female rats, the liver index increased significantly and pathological changes of the liver were also observed compared with the control. No significant changes were found in the rats treated with moderate and low dose compared with the control. Conclusion Glufosinate-ammonium may produce a toxic effect on the liver of rat when the exposed dose is more than 500 mg/kg.