Mutations in UGT1A1 gene in neonates with hyperbilirubinemia of Guangxi Heiyi Zhuang nationality / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the distribution of mutations of UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship with hyperbilirubinemia among neonates with hyperbilirubinemia of Guangxi Heiyi Zhuang nationality.</p><p><b>METHODS</b>Total genomic DNA was extracted from the blood of 100 neonates with hyperbilirubinemia (case group) and 100 neonates without hyperbilirubinemia (control group), all of whom were selected from Guangxi Heiyi Zhuang population. TATA box and all exons of UGT1A1 gene were amplified by PCR and directly sequenced.</p><p><b>RESULTS</b>(TA)7 insertion mutation in TATA box, G71R missense mutation in exon 1, and 4 single nucleotide polymorphisms (SNPs) (rs199539868, rs114982090, rs1042640 and rs8330) in exon 5 were observed. The allele frequency of G71R mutation in the case group was significantly higher than that in the control group (P<0.01). There were no significant differences in the genotype distribution and allele frequency of TATA box mutation and SNPs (rs1042640 and rs8330) between the two groups (P>0.05). The logistic regression analysis showed that the odds ratios (95% confidence intervals) of UGT1A1 TATA box mutation, G71R mutation, and SNPs (rs1042640 and rs8330) associated with the development of neonatal hyperbilirubinemia were 0.846 (0.440, 1.629), 3.932 (1.745, 8.858), 0.899 (0.364, 2.222), respectively.</p><p><b>CONCLUSIONS</b>(TA)7 insertion mutation and G71R missense mutation of UGT1A1 gene are common mutation types in neonates with hyperbilirubinemia of Guangxi Heiyi Zhuang nationality. Four SNPs (rs199539868, rs114982090, rs1042640, and rs8330) was first reported in China. UGT1A1 G71R missense mutation is a risk factor for hyperbilirubinemia in neonates of Guangxi Heiyi Zhuang nationality.</p>

Relationship between Gene Polymorphisms in Interleukin-12B Promoter and Upper Gastrointestinal Disease Infected with Helicobacter Pylori in Children and Adolescent / 实用儿科临床杂志

Objective To investigate the relationship between the promoter of IL-12B gene polymorphism and the susceptibility and clinical features of chronic gastritis and duodenal ulcer with or without Helicobacter pylori(Hp) infection in children and adolescent.Methods Mucosal biopsies were obtained from 132 children and adolescent (patient group),including 100 children with chronic gastritis and 32 children with duodenal ulcer,undergoing an upper gastrointestinal endoscopy for dyspeptic symptoms.Biopsy specimens were stained with hematoxilin and eosin (HE),and gastritis was graded according to the Sydney system.Serology,urease test and histology were taken to assess Hp status.Genomic DNA was obtained from peripheral blood or gastric biopsies of patients and 102 healthy children as normal control group.The promoter of IL-12B +1188A/G gene polymorphism was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing.The genotype distributions and allele frequencies were compared between the study group and the normal control group,and the association of genotypes with clinicopathological features was studied.IL-12B mRNA level expressions in gastric mucosa were confirmed by reverse transcription PCR biopsy-based tests.Results The genotype distributions and allele frequencies of IL-12B +1188A/G gene polymorphisms were similar in gastric upper gastrointestinal diseases and healthy subjects.The IL-12B +1188A/G gene polymorphisms were not associated with Hp status.IL-12B+1188A/G gene polymorphisms did not affect IL-12B mRNA level expressions and were not associated with the degree of antrum chronic inflammation.Conclusions These data suggest that IL-12B+1188A/G gene polymorphisms are not associated with susceptibility to chronic gastritis and duodenal ulcer in children and adolescent.

Correlation of Genetical Point Mutation of Platelet Activating Factor Acetylhydrolase and Primary Nephritic Syndrome / 实用儿科临床杂志

Objective To release the correlation of point mutation of platelet activating factor acetylhydrolase(PAF-AH)gene and primary nephritic syndrome (PNS).Method According to the effect of hormonal therapy,94 children with PNS were divided into three groups:steroid-sensitive nephritic syndrome(SSNS),steroid-resistent nephritic syndrome(SRNS),steroid-dependent nephritic syndrome(SDNS).The point mutation of PAF-AH gene (G994T) were identified by molecular biology technique in children with PNS and 239 healthy children were set as control group.Results No statistics differences were found relating to the genotype and allele frequencies between patients with PNS,SSNS,SRNS and normal controls.But it is confirmed that the genotype and allele frequencies among patients with nephritic type nephritic syndrome (NTNS)was higher than patients with simple type nephritic syndrome(STNS) and normal controls.SDNS was higher than both SSNS and normal controls.The number of relapses during the first year after onset was significantly higher in the patients who were heterozygous for the mutant allele (GT) or homozygotes (TT) than in those of the GG homozygotes.Conclusion Most PNS children with PAF-AH gene mutation occurred at position 994 were NTNS.The risk of relapse during the treatment period was higher in patients with PAF-AH gene mutation occurred at position 994.

Correlation between Platelet Activating Factor Acetylhydrolase and Primary Nephrotic Syndrome / 实用儿科临床杂志

Objective To investigate the association of platelet activating factor acetylhydrolase(PAF-AH) activity in children with primary nephrotic syndrome(PNS).Methods The plasma PAF-AH activity was measured in 78 children with PNS who were divided into 3 groups:steroid-responsive nephritic,steroid-dependent nephritic,steroid-resistent nephritic,after they had been given steroid for 6 months.The plasma PAF-AH activity were also measured in 60 healthy children at the same age,with spectrophotometric assay,at the ame time,the blood cholesterol was measured.Results The blood cholesterol has positive correlation with the plasma PAF-AH activity,there was no significant difference of the blood cholesterol among 3 groups in nephrotic syndrome children,there was a significant difference in the plasma PAF-AH activity among 3 groups in PNS children,but there was no significant difference in the plasma PAF-AH activity between the groups of steroid-responsive nephritic and healthy children.Conclusion Plasma PAF-AH activity is related to the sensibility to steroid treatment in children′s PNS,and the plasma PAF-AH activity in steroid-resistent nephritic is higher than steroid-dependent nephritic.It is a question that if gene mutation is related with PAF-AH activity.

Association of HLA-DQA1 loci with Helicobacter pylori infection in children of Guangxi Zhuang, Mulam nationalities, China and central Jing nationality, Vietnam / 中华儿科杂志

<p><b>OBJECTIVE</b>To compare the prevalence of Helicobacter pylori (Hp) infection in children of Zhuang and Mulan ethnic groups, Guangxi Luocheng county, China and in children of Jing ethnic group, Central Vietnam and to analyze the association of HLA-DQA1 alleles of these ethnic groups' children with Hp infection.</p><p><b>METHODS</b>Serodiagnosis by determining Hp antibody with ELISA and determination of serum CagA, VacA and urease antibodies by immunoblotting were performed for 54 Zhuang, 76 Mulan and 109 Jing children. Polymerase chain reaction-single strand polymorphism (PCR-SSP) technique was applied to determine the polymorphism of the HLA-DQA1 locus of these children and then the association of HLA-DQA1 alleles of these minority children with Hp infection was analyzed by SAS software.</p><p><b>RESULTS</b>The prevalence of Hp infection were 39% in Vietnamese Jing nationality, which was significantly lower than that in children of Guangxi Luocheng county (65% in Zhuang nationality and 58% in Mulan nationality) (P < 0.01). The distribution of HLA-DQA1 locus was not significantly different among the 3 groups. The frequency of HLA-DQA1 * 0104 allele was significantly higher in children with Hp infection than in children without Hp infection in each of the 3 groups (P < 0.01).</p><p><b>CONCLUSION</b>The results indicated that the prevalence of Hp infection in Zhuang and Mulan minority ethnic groups in Guangxi, China was higher than that in Vietnamese Jing ethnic group children. HLA-DQA1 * 0104 allele may be associated with susceptibility to Hp infection.</p>

Rapid diagnosis of 21 trisomy syndrome by fluorescence quantitative polymerase chain reaction / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish a method of fluorescence quantitative PCR to detect 21 trisomy syndrome.</p><p><b>METHODS</b>At first, using one pair of primer to simultaneously amplify different fragments of two highly homologous genes of the human liver-type phosphofructokinase located on chromosome 21 (PFKL-CH21) and the human muscle-type phosphofructokinase located on chromosome 1 (PFKM-CH1). Then, staining the PCR products of these homologous genes with SYBR Green I, comparing the fluorescence intensities of the bands after electrophoresis, and analyzing the data.</p><p><b>RESULTS</b>The relative fluorescence intensity ratios of PFKL-CH21/PFKM-CH1 in 21 trisomy syndrome and normal individuals were 1.58+/-0.17 (mean+/-SD) and 1.00+/-0.05 (mean+/-SD), respectively; the difference between the two groups was highly significant.</p><p><b>CONCLUSION</b>SYBR Green I fluorescence quantitative polymerase chain reaction is an acurate, rapid, safe and practical approach for the detection of 21 trisomy syndrome.</p>

HLA-DQA1 genotyping by PCR-SSP technique in Jing nationality of Central Vietnam / 中国免疫学杂志

Objective:To investigate the polymorphism of HLA-DQA1 genes in Jing nationality of Central Vietnam.Methods:Applied PCR-SSP tecnique to determine the polymorphism of the HLA-DQA1 alleles of 105 healthy children and youth,unrelated individuals in Central of Vietnam.Results:10 HLA-DQA1 alleles were detected of which DQA1*0104 were the most common allele with frequency of 21.3% and lowest frequency is DQA1*0601.Conclusion:The results indicate that HLA-DQA1 alleles polymorphism of Jing nationality in Central Vietnam is different from the other Chinese. [