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Non-invasive prenatal testing is a novel detection method which uses sequencing of maternal plasma cell-free DNA in order to screen genetic disease for pregnant women. Compared to traditional prenatal pregnancy tests and disease diagnosis techniques, this technology is non-invasive, convenient, accurate and so on. Since the discovery of cell-free DNA in the peripheral maternal plasma in 1997, non-invasive prenatal genetic testing has been widely used in clinical pregnancy tests and related medical research with the development of high-throughput gene sequencing,it has meaningful achievements in the detection of fetal aneuploidy and enormous challenges in the detection of complex genetic diseases . This article reviews the development of non-invasive prenatal genetic testing technology.
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OBJECTIVE:To investigate the effect of X-ray repair cross complementing gene(XRCC1)Arg399Gln(G→A) polymorphism on efficacy of oxaliplatin+fluorouracil chemotherapy and survival time of advanced gastric cancer patients. METH-ODS:Totally 52 cases of advanced gastric cancer were selected from Hainan Provincial People's Hospital during Jan. 2013-Jan. 2015. They were given oxaliplatin+fluorouracil chemotherapy,for 3 courses(a treatment course lasted for 3 weeks). The genotypes of patients were detected by PCR-LDR. Disease control rate and progression free survival were compared among different geno-types. RESULTS:Among 52 cases of advanced gastric cancer,there were 28 cases of XRCC1 GG genotype(53.8%),21 cases of GA genotype(40.4%),3 cases of AA genotype(5.8%),frequencies of which were all in line with Hardy-Weinberg balance(P>0.05). Disease control rates of 52 cases were 76.9%,among which disease control rate(92.9%)of GG genotype was significantly higher than that of GA+AA genotype(58.3%),with statistical significance(P<0.05). The average progression free survival of 52 cases was(7.1+1.2)months,among which progression free survival of GG genotype [(8.6±0.8)months] was significantly longer than that of GG+GA genotype [(5.9 ± 0.7)months],with statistical significance (P<0.05). CONCLUSIONS:XRCC1 polymor-phism is correlated with efficacy of oxaliplatin+fluorouracil chemotherapy and progression free survival,and XRCC1 GG genotype is more sensitive to chemotherapy drugs. XRCC1 gene can be regarded as predictive indicator for therapeutic efficacy of chemothera-py and survival.
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Objective:To discuss the passive immunity effect and mechanism of HBIG injections to matrix to block the mother-to-child vertical transmission of HBV. Methods:94 cases of patients with chronic viral hepatitis were selected and divided into 3 groups randomly. 31 cases of control group were given no HBIG intervention,while 31 cases of baby intervention ( BBI) group were given HBIG injection in 6h of birth,and 32 cases of infant & mom intervention ( IMI) group were given HBIG injection respectively in 28,32,36 weeks of gestation and 6h of birth. Further more,all newborns were vaccinated against hepatitis B in 0,1 and 6 months,after the last vaccination,peripheral blood of the children were extracted and detected for HBV markers,HBV-DNA and immune function. Results:There were significant difference (P<0. 05) in neonatal HBeAg,HBsAg and HBV-DNA positive rate for the three groups,with Control group got the highest while IMI group got the lowest;and there are also significant differences (P<0. 05) HBeAb positive rate,with Control group got the lowest while IMI group got the highest. We also found that the complement (C3,C4) levels and T cell subtypes (CD3+,CD4+,CD8+) count of the three groups of newborns had significant differences too(P<0. 05),with Control group got the lowest while IMI group got the highest;in terms of immunoglobulin,both the IMI and BBI group were higher in IgG and IgM level (P<0. 05), while there was no obvious difference in IgA between groups (P<0. 05). Conclusion:Maternal HBIG injections can effectively activate the maternal humoral immunity and cellular immunity,resulting in the decrease of HBV. It can also improve newborn′s antigen-antibody response and relieve T lymphocytes loss induced by antiviral consumption through placenta,which may play great role in the passive im-munity mechanism of blocking mother-to-fetus transmission.
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Objective To investigate the mutation screening of the GJB3,GJB2,mtDNA 1555 A>G and SLC26A4 gene in Hainan Pronive population with non-syndromic hearing impairment.Methods PCR were performed with one pair of primer in the coding sequence of GJB3,GJB2,mtDNA 1555 A>G and SLC26A4 gene.Bidirectional sequencing of PCR products was subsequently applied in 429 patients with hearing loss.Results 55 patients gene mutation of 429 patients were found. The point mutation in mtDNA was found in 5 patients (1.1 7%).1 5 5 5 A>G mutation of mtDNA was found in 4 patients. 1494 C>T mutation of mtDNA was found in one patients.GJB2 gene mutation was found in 25 patients (5.83%).235 del C mutation of GJB2 gene was found in 9 patients.235 del C/GJB2 299 del AT mutation was found in two patients.235 del C mutation was found in 10 patients.176 del 16 mutation was found in 4 patients.SLC26A4 mutation was found in 22 patients (5.13%).IVS7-2 A>G mutation of SLC26A4 was found in 4 patients.2168 A>G mutation of SLC26A4 was found in one patient.IVS7-2 A>G mutation was found in 12 patients.2168 A>G mutation was found in 5 patients.538 C>T mutation of GJB3 gene was found in 3 patient.IVS7-2A>G mutation and 2168 A>G muation of SLC26A4 gene was found in 4 of 22 EVA patients.Conclusion GJB2 gene and SLC26A4 gene have revealed responsible genes for Hainan deafness patients.
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Objective This study investigated high fat diet influence on the changes of vitamin D receptor (VDR) expression and endothelial nitric oxide synthase (eNOS) in apolipoprotein E-deficient(apoE-/-) mice.MethodsApoE-/- mice and C57BLP6J mice were divide into two groups (normal control and high fat diet),high fat diet group were feed high fat feedstuff.Plasma 25-(OH)D levels were determined by competitive protein binding radioimmunity,VDR expression were determined by immunofluorescence and reverse transcription-polymerase chain reaction.The levels of NO and eNOS were determined by nitrate reductase.ResultsCompared with normal control group,high fat diet caused more severe dam-age of atherosclerosis in wild type mice and apoE-/- mice.In apoE-/- mice,the levels of plasma 25-(OH)D were significantly decreased [(26.44±1.28) ng/mL,(22.68±2.07)ng/mL,(17.46±2.22)ng/mL,(15.88±0.97)ng/mL,P＜0.01],the expression of VDR protein and mRNA were significantly increased[VDR :0.244±0.088,0.346±0.132,0.547±0.128,0.768±0.162;VDRmRNA:0.228±0.083,0.375±0.103,0.451±0.117,0.597±0.131,P＜0.01],and the levels of NO and eNOS were significantly increased[NO:(39.74±4.81)μmol/L,(48.1±5.24 )μmol/L,(67.34±6.14 )μmol/L,(86.74±8.05)μmol/L;eNOS:(8.6±0.77 )U/L,(12.28±1.42)U/L,(15.96±0.92)U/L,(18.68±1.15)U/L,P＜0.01].These changes were more significantly in high fat diet group(P＜0.01).ConclusionsThere were abnormalities of plasma 25-(OH)D level,VDR expression and the level of NO and eNOS in apoE-/- mice.These changes were more significantly in high fat diet group.
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Objective To investigate the effects of Lp(a)on proliferation GMCs of rat model induced by lipopolysaccharide and explore the possible mechanism of Lp(a)in the proliferation of rat GMCs.Methods To observe the effects of Lp(a)on proliferation of GMCs,different dosage of Lp(a)were used,The research were divided into three groups:Control group,LPS group,Lp(a)group.After culture(at the end of 12h,24h,48h,60h and 72h),the cultured GMCs and suspension were collected to observe the rate of GMCs proliferation by MTT,the positive rate of proliferation cell nuclear antigen(PCNA)by immunohistochemisty,and the level of intercellular adhesion molecule-1(ICAM-1)by ELISA respectively.Results Compared with control and LPS group,MTT,positive rate of PCNA and ICAM-1 of GMCs were increased more significantly in Lp(a)group.MTT ,the positive rate of PCNA and ICAM-1 of GMCs were increased as Lp(a)dosage increased,a maximal effect was seen when Lp(a)was 2.5 μg/L or 5.0μg/L.When the dosage continue increased,MTT,the positive rate of PCNA and ICAM-1 activity of GMCs began to decrease in Lp(a)group.ICAM-1 showed positive correlation with MTT and the positive rate of PCNA.Conclusion Lp(a)can significantly affect the rate of GMCs proliferation,and this affection is in a dosage-and timedependent manner.Low dosage stimulates GMCs proliferation, and high dosage inhibits GMCs proliferation.ICAM-1 shows positive correlation with MTT and the positive rate of PCNA.The effect of Lp(a)on GMCs may be through ICAM-1.
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<p><b>OBJECTIVE</b>To identify a rare allele in the FGA locus in a Hainan Li ethnic family.</p><p><b>METHODS</b>Short tandem repeat-PCR (STR-PCR) and DNA sequencing were used to detect the allele.</p><p><b>RESULTS</b>A rare allele in the FGA locus was identified. It is FGA-13.</p><p><b>CONCLUSION</b>This finding enriched the gene polymorphism database, and may improve the ability of individual identification.</p>
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Adult , Female , Humans , Alleles , Base Sequence , Databases, Genetic , Microsatellite Repeats , Genetics , Molecular Sequence Data , Polymerase Chain Reaction , Sequence Analysis, DNAABSTRACT
Objective To establish the method to detect the expression of apolipoprotein E gene in human adipose cells. Methods Apolipoprotein E gene expression was determined by competitive reverse transcription-PCR in adipose cells of healthy children. Results Apolipoprotein E gene expressed in the adipose cells of healthy children. The mean expression quantity of apolipoprotein E mRNA in adipose cells was (0.41?0.12 ) in healthy children. Conclusions Competitive reverse transcription-PCR is a rapid, simple, sensitive and accurate method to analyze expression of apolipoprotein E gene.
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Objective In order to investigate the clinical feature in children with family of coronary heart disease(CHD).Methods The clinical study were analysed in 83 children with family of coronary heart disease.Results In 83 children with family of coronary heart disease , most of them were school children and boys .Their grandparent and law grandparent had CHD in most of children. The incidences of overweight ,obesity and hypertension were higher .There was lipids metabolism abnormality . There abnormal indices had more remarkable in children with family of premature CHD. There were not hyperglycemia in children with family of coronary heart disease.Conclusion There is abnormality of weight ,lipids metabolism and blood pressure in children with the family of CHD .It is obviously in children with family of premature CHD,suggesting the children should be treated as soon as possible.