Objective To explore the potential value of multiple tumor markers chip( C- 12) in preoperative diagnosis of gastric cancer. Methods The serum levels of 12 rumor markers were measured in 45 gastric cancer patients, 38 benign gastrosis patients and 65 normal controls by use of C-12 in order to find out the most levels of CA199, CEA, CA242, AFP and CA125 in the gastric cancer patients were significantly higher than those of the benign gastrosis patients and normal controls. Moreover, the serum levels of β- HCG and HGH were also significantly higher in gastric cancer group than benign gastric disease group and control group ( P ＜sis of gastric cancer. CEA is the TM with the highest sensitivity, validity and negative predictive value of 57.8% ,81.8% and 77.1% ,respectively whereas CA242 is the TM with the highest specificity and positive CEA + CA125 + CA199 and CEA + CA242 + CA199 + CA125, respectively. The sensitivity, specificity and validity of the best combination of 2 TMs, 3 TMs and 4TMs for gastric cancer were not statistically significantly different from those of C-12 and the best TM ( P ＞ 0.05 ). Conclusion The multiple tumor markers chip ( C-12 ) has a relatively high value in the preoperative diagnosis of gastric cancer. The best combinations of 2 TMs ( CEA + CA125) ,3 TMs ( CEA + CA125 + CA199 ) and 4TMs ( CEA + CA242 + CA199 + CA125 ) for gastric cancer diagnosis could be sufficient to replace the combination of 12 TMs.

Objective To determine the mutations in exon 5 of the phenylalanine hydroxylase(PAH)gene in phenylketonuria(PKU)patients from Xinjiang.Methods The mutations in exon 5 and flanking sequence of PAH gene were detected by SSCP analysis and DNA sequencing.Results Four different mutations,including missence mutation F161S,splice mutation IVS4-1G→A,missence mutation R158Q and nonsence mutation Y166X were identified in 74 chromosomes from 37 PKU patients,with relative frequencies of 4.1%,1.4%,1.4% and 1.4%,respectively.The frequency of mutant alleles in exon 5 is 8.1%.Considering the previous reports and the present study,R158Q was the most prevalent form in PKU patients from European and Latin American countries,IVS4-1G→A was a common mutation inoriental PKU populations.However,F161S and Y166X are two characteristic forms in Chinese.Conclusion Characteristics of PAH gene mutations and their distribution were showed in Chinese PKU population from Xinjiang,where is a hinterland located between China and Europe.The results give a clue that Xinjiang might be an ideal genetic resource repertoire for studying diversity of gene mutations,heterogeneity of PAH gene,human genesis and migration.

Objective To investigate the point mutation features of exon 11 and 12 in phenylalanine hydroxylase(PAH)gene of the patients with phenylketonuria(PKU)in Xinjiang.Methods PCR/SSCP and gene sequencing were used in present study.Results Five mutations were identified from 74 chromosomes of 37 patients.Among them two mutations were detected from exon 11 including nonsense mutation Y356X and splice site mutation V399V,and three mutations were detected from exon 12 including R413P,R408W and A434D,all which were missense mutation.The frequency of the five mutations were 5.4%,5.4%,4.1%,1.4%,1.4% and 1.4%,respectively.The allelomorphic frequency of exon 11 and 12 were 10.8% and 6.8%,respectively.Among the five mutations,R413P is common in Japan,Y356X and V399V are centered in north China,and R408W is the most often mutation in Europe and America.Conclusion Xinjiang Uygur Autonomous Region is situated on northwest China,contiguous to other countries of central Asia,and is such an area differed from other areas of China,and distributed special PAH gene mutation in PKU patients.

Objective To analyse the association of apolipoprotein E genotype with cerebral infarction and myocardial infarction in the old population of Urumqi. Methods The polymerase chain reaction and restriction fragment length polymorphism technique were used to detect the distribution of genotype and gene frequency of ApoE alleles in 56 cases of cerebral infarction(CI), 60 cases of myocardial infarction (MI) and 104 healthy subjects as control. Results The frequency of ApoE ?3/?4 and ?4/?4 genotypes in CI and MI groups was higher than that in control group(P

Objective To evaluate the clinical value of multiple tumor marker protein chip in diagno-sis and detection of postoperative recurrence of breast cancer.Methods The serum levels of 12 tumor makers (CA199,NSE,CEA, CA2A2,Ferritin,β-HCG,AFP,f-PSA,PSA,CA125,CA153 and HGH)were measured in 70 preoperative breast cancer patients, 32 recurrence patients,52 non-recurrence patients and 76 normal con-trois.Results ①The breast cancer group had significantly higher positive rate than that of the controls (P<0.05).The positive rates and serum levels of CA199,CEA,CA242,Ferritin,CAI25 and CA153 in breast cancer patients had those of control significant differences compared with groups (P<0.05).②The recurrence group had significantly higher positive rate than that of non-recurrence group (P<0.05).The positive rates and se-rum levels of CA199, CEA, Ferritin, CA125 and CA153 in the recurrence patients had significant differences compared with those of non-recurrence patients(P<0.05).③The positive rate of recurrence group had signif-icant difference compared with that of breast cancer group(P<0.05).Moreover,The positive rate and serum level of Ferritin in the recurrence patients had significant difference compared with that of breast cancer pa-tients.Conclusion The multiple tumor marker protein chip detective system has valid value of clinical appli-cation in the diagnosis and detection of postoperative recurrence of breast cancer.The combination detection of CA199, CEA, Ferritin ,CA125 and CA153 may be the economical and effective in the diagnosis and detection of postoperative recurrence of breast cancer.

Objective To understand the type and frequency of the gene mutation in exon 6 of phenylalanine hydroxylase(PAH) in the children of Ningxia,in order to provide foundation for phenylketonuria(PKU) gene diagnosis and prenatal diagnosis.Methods The exon 6 and flanking introns of 73 cases of classic PKU patients in Ningxia[all confirmed at Ningxia Neonatal Screening Center from Jan.2010 to Jun.2013,and distributed in Ningxia 22 County (city,district),aged from 15 days to 13 years,including 38 male cases,35 female cases,and Hui 39 cases,Han 34 cases] as well as 100 healthy newborn babies(Hui 50 cases;Han 50 cases) were sequentially analyzed by using the approach of PCR direct sequencing.Results There were 6 kinds of mutations detected,including EX6-96A ＞ G(6.85％),Q232X(2.74％),D222G(1.37％),V2301 (1.37％),R176X (0.68％) and N223I (0.68％).Mutation detection rate of exon 6 was 13.70％,and there were 3 mutation types:50.0％ missense mutation (3 types) ;33.3 ％ nonsense mutation (2 types) ;16.7％ cleavage site mutation(1 type).After reviewing the previous studies,the researchers had found out that EX6-96A ＞ G,Q232X and R176X were ever reported in China,and V2301 and D222G had been reported in our country for the first time but N223I was a new kind of PAH gene mutations were not been reported in the world.Conclusions It has defined the gene type and frequency of PAH gene mutations in exon 6 in the children of Ningxia and it will enrich the research of PKU in this area,and provide the basis for the development of gene diagnosis of PKU.

Gene analysis of the first family with ?-thalassemia in Xinjiang was carried out by polymerase chain reaction (PCR) in combination with dot blot hybridization of allele -specific oligonucleotide (ASO) probes. Seven of the 12 family members were heterozygous for the IVS- Ⅱ-654 (C→T) mutation. The abnormal ? gene of proband was confirmed from the paternal side according to family survey, clinical syndrome and hematological data.

Objective To study the T cells lineage polymorphism of TCR BV CDR3 in the peripheral blood of ankylosing spondylitis (AS) patients,in order to provide experimental basis for the immunological patho-genesis study of AS.Methods Twenty-six subfamilies of CDR3 T cells of TCR BV in the PBMC of AS patients were amplified by RT-PCR method,then TCR BV CDR3 lineages polymorphism were analyzed by immunization scanning spectrum.Results TCR BV CDR3 scanning spectrum of 20 active AS patients showed abnormal distribution peak,including monoclonal,oligoclonal/oligoclonal trend,skewing peak and irregular abnormal peak.Among them,some subfamilies of 18 patients showed oligoclonal/oligoclonal trend expansion,BV16 and BV18 two subfamilies of one case showed monoclonal expansion.Most spectral type of PBMC TCR BV CDR3 in five normal controls showed Gauss distribution.Conclusion TCR BV CDR3 lineage have significant characteristic polymorphism and spectrum drift characteristics in the peripheral blood of AS patients,which further indicate that T cells has plaied an important role in the immunological pathogenesis of AS.Monoclonal/oligoclonal expansion of T cells may be autoreactive T cells in nature and they may be involved in the pathogenesis of AS.

BACKGROUND: Phenylketonuria is caused by gene mutation of phenylalanine hydroxylasel (PAH), which is mainly induced by permutation, short segments and insertion of base.OBJECTIVE: To evaluate the gene mutation of phenylalanine hydroxylasel in phenylketonuria in Hui nationality.DESIGN: Open study.SETTING: Urumqi General Hospital of Lanzhou Military Area Command of Chinese PLA; Capital Pediatrics Institute.PARTICIPANTS: A boy of Hui nationality in China and aged 3.1 years was selected in this study. The boy had intellect hysteresis in his one year and received medical treatment in his three years, while he was diagnosed as cerebral paralysis. After repeatedly inefficient treatment, he was hospitalized in our hospital on December 13, 2004. Iron sesquichloride in urine was strongly positive and concentration of serum phenylalanine was 1 680 μmol/L; therefore, he was diagnosed as the typical phenylketonuria.METHODS: 5 mL venous blood was selected from the boy and his parents, respectively, and anticoagulated with EDTA-Na2. DNA in gene group was extracted by using typical phenol/chloroform method. In addition, polymerase chain reaction (PCR) primer sequence of extron 7, 6, 11, 3, 12 and 5 of PAH gene was designed based on references. And then, PCR products were detected with 2% agarose gel electrophoresis. 5 μL PCR products were mixed with the same volume of degenerated buffer solution, degenerated at 97 ℃ for 5 minutes, put in iced bath and performed with 80 g/Lnon-degenerated polyacrylamide gel electrophoresis. After that, the products were dealt with sliver staining routinely, and single strand DNA banding patterns were analyzed and recorded. ABI377 automatic sequenator (PE Company) was used to detect PCR sequence and purify PCR product in Shanghai Boya Biotechnology Company.MAIN OUTCOME MEASURES: Iron sesquichloride in urine, concentration of serum phenylalanine and mutant gene types of phenylalanine hydroxylase.RESULTS: Extron 7, 6, 11, 3, 12 and 5 of PAH gene were analyzed in the boy and his parents. The results demonstrated that SSCP electrophoresis in extron 6 was different from that in the normal control group. Site of electrophoresis strip of his father was coincident with that of his mother, but different from that of the boy. Sequencing results indicated that point mutation (cytosine replaced by thymine), which was a R176X mutant heterozygote, occurred at the 526th site of cDNA of phenylalanine hydroxylase gene in his parents; however, two chromosomes of the boy had mutation at the same site, which was R176X mutant homozygote.CONCLUSION: Mutation of R176X homozygote of phenylketonurea is firstly reported in Hui nationality in China.

OBJECTIVE: To investigate the correlation between single-nucleotide polymorphism (SNP) of ARID5B gene and resistance to methotrexate (MTX) in children with acute lymphoblastic leukemia (ALL). METHODS: A total of 144 children with ALL who were treated in General Hospital of Ningxia Medical University from January 2015 to November 2021 were enrolled and divided into MTX resistant group and non-MTX resistant group, with 72 cases in each group. Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) technology was used to measure the SNP of ARID5B gene in all children and analyze its correlation with MTX resistant. RESULTS: There were no significant differences in the genotype and gene frequency of rs7923074, rs10821936, rs6479778, and rs2893881 between MTX resistant group and non-MTX resistant group (P>0.05). The frequency of C/C genotype in the MTX resistant group was significantly higher than that in the non-MTX resistant group, while the frequency of T/T genotype was opposite (P<0.05). The frequency of C allele in the MTX resistant group was significantly higher than that in the non-MTX resistant group, while the frequency of T allele was opposite (P<0.05). Multivariate logistic regression analysis showed that ARID5B gene rs4948488 TT genotype and T allele frequency were risk factors for MTX resistant in ALL children (P<0.05). CONCLUSION The SNP of ARID5B gene is associated with MTX resistant in ALL children.
Child ; Humans ; DNA-Binding Proteins/genetics* ; Gene Frequency ; Genotype ; Methotrexate ; Polymorphism, Single Nucleotide ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics* ; Transcription Factors/genetics* ; Drug Resistance, Neoplasm