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Microhaplotypes have been highly regarded for forensic mixture DNA deconvolution because they do not experience interference from stutters in the same way as short tandem repeat markers, and they tend to be more polymorphic than single nucleotide polymorphism markers. However, forensic microhaplotype kits have not been reported. The MHSeqTyper47 kit genotypes 47 microhaplotype loci. In this study, MiSeq FGx sequencing metrics for MHSeqTyper47 were presented, and the genotyping accuracy of this kit was examined. The sensitivity of MHSeqTyper47 reached 62.5 pg, and full genotyping results were obtained from degraded DNA samples with degradation indexes ≤ 3.00. Full genotypes were obtained in the presence of 100 ng/μL tannin, 50 μM heme, 25 ng/μL humic acid, and 1.25 μg/μL indigo dye. In DNA mixture studies, a minimum of 31 loci of the minor contributor were correctly genotyped at 1:99 or 99:1 mixing ratios, with the cumulative random matching probability of these loci reaching 4.54 × 10−25. Mixing ratios could be reliably predicted from two-donor DNA mixtures based on the loci with four called alleles. Taken together, these data showed that the MHSeqTyper47 kit was effective for forensically challenging DNA analysis. 相似文献
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【摘要】目的 探讨二维斑点追踪显像技术(2D-STI)评估新生儿窒息合并心肌损害后左心室整体及局部心肌的纵向收缩功能在早期诊断窒息新生儿心肌损害中的临床价值。方法 选择2019年07月至2020年12月期间在右江民族医学院附属医院新生儿科住院的足月窒息新生儿61例,经临床确诊合并心肌损害,根据Apgar评分分为轻度组31例和重度组30例,选择同期住院出生的正常足月新生儿30例作为对照组。检测受检者的血清肌酸激酶同工酶(CK-MB)、肌钙蛋白(cTnT)、左室舒张期前后径(LVDId)、左室射血分数(LVEF)、左室短轴缩短率(LVFS)、辛普森法左室射血分数(Simpson EF)、左室三腔心整体应变(GLS-LAX)、左室四腔心整体应变(GLS-A4C)、左室两腔心整体应变(GLS-A2C)、左室整体应变(GLS-AVG),分析GLS-AVG和CK-MB、cTnT三者的相关性。结果 三组间CK-MB和cTnT比较差异有统计学意义(P<0.05)。三组间性别、体重、胎龄均无统计学差异(P>0.05)。三组间LVDId、LVEF、LVFS、Simpson EF比较差异无统计学意义(P>0.05)。GLS-AVG与CK-MB呈负性相关(r=-0.515,P=0.000),GLS-AVG与cTnT呈负性相关(r=-0.912,P=0.000)。结论 GLS-AVG与CK-MB、cTnT具有相关性,GLS-AVG可作为窒息新生儿心肌损害早期诊断指标。 相似文献
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《The Journal of thoracic and cardiovascular surgery》2023,165(2):460-468.e2
ObjectivesDonor-specific cell-free DNA shows promise as a noninvasive marker for allograft rejection, but as yet has not been validated in both adult and pediatric recipients. The study objective was to validate donor fraction cell-free DNA as a noninvasive test to assess for risk of acute cellular rejection and antibody-mediated rejection after heart transplantation in pediatric and adult recipients.MethodsPediatric and adult heart transplant recipients were enrolled from 7 participating sites and followed for 12 months or more with plasma samples collected immediately before all endomyocardial biopsies. Donor fraction cell-free DNA was extracted, and quantitative genotyping was performed. Blinded donor fraction cell-free DNA and clinical data were analyzed and compared with a previously determined threshold of 0.14%. Sensitivity, specificity, negative predictive value, positive predictive value, and receiver operating characteristic curves were calculated.ResultsA total of 987 samples from 144 subjects were collected. After applying predefined clinical and technical exclusions, 745 samples from 130 subjects produced 54 rejection samples associated with the composite outcome of acute cellular rejection grade 2R or greater and pathologic antibody-mediated rejection 2 or greater and 323 healthy samples. For all participants, donor fraction cell-free DNA at a threshold of 0.14% had a sensitivity of 67%, a specificity of 79%, a positive predictive value of 34%, and a negative predictive value of 94% with an area under the curve of 0.78 for detecting rejection. When analyzed independently, these results held true for both pediatric and adult cohorts at the same threshold of 0.14% (negative predictive value 92% and 95%, respectively).ConclusionsDonor fraction cell-free DNA at a threshold of 0.14% can be used to assess for risk of rejection after heart transplantation in both pediatric and adult patients with excellent negative predictive value. 相似文献
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《HPB : the official journal of the International Hepato Pancreato Biliary Association》2022,24(10):1780-1788
BackgroundWe assessed whether or not covalently closed circular DNA (cccDNA) levels in the background liver influence the recurrence of hepatocellular carcinoma (HCC) in patients with resolved hepatitis B virus (HBV) infection.MethodsAmong 425 patients who underwent initial hepatectomy for HCC between 2010 and 2018, a retrospective review was performed in 44 with resolved HBV infection. The clinicopathologic characteristics were analyzed for correlation with tumor recurrence. The HBV cccDNA levels were tested via a droplet digital polymerase chain reaction assay.ResultsHBV cccDNA was detected in 27 of 44 patients (61%), and the median level was 1.0 copies/1000 ng (range, 0-931.3 copies/1000 ng). Anti-HBc ≥8.9 S/CO was associated with cccDNA detection (odds ratio, 11.08; 95% confidence interval [95% CI], 2.48-49.46; P = 0.002). Twenty-eight patients (64%) developed HCC recurrence after hepatectomy. The overall 3- and 5-year recurrence-free survival rates were 45.7% and 34.3%, respectively.19 HBV cccDNA levels was not significantly associated with HCC recurrence, while the presence of multiple tumors was an independent risk fact or (hazard ratio, 6.53; 95% CI, 2.48-17.19; P < 0.001.ConclusionHBV cccDNA levels did not influence HCC recurrence after hepatectomy. Anti-HBc levels may be used as a surrogate marker for cccDNA. 相似文献
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The Relationship between the Methylation of Promoter Regions of Tumor Suppressor Genes PTEN and APC with Endometrial Cancer 下载免费PDF全文
Tayebeh GhazanfariGolnaz Asaadi TehraniParisa Maziri 《Asian Pacific journal of cancer prevention》2019,20(8):2259-2265
Background: Endometrial neoplasms is one of the most typical gynecologic diseases with harmful effects. Promoterhypermethylation is an important mechanism of the inactivation of tumor suppressor genes in endometrial neoplasms.Epigenetic changes of the PTEN and APC genes have shown to be present in various cancers. Therefore, in this study,we have investigated the association between the promoter hypermethylation of PTEN and APC genes with endometrialneoplasms. Methods: For this study, 28 patients with endometrial neoplasms as well as 22 controls were studied.Analysis of the promoter methylation regions of PTEN and APC genes were performed by Methylation-Specific PCR.Results: The frequency of PTEN and APC genes promoter methylation was 28.57% and 17.86% in tumor tissues, and11.54% and 3.85% in blood samples, respectively. We found a significant relationship between blood and tissue inPTEN methylation (p = 0.0353). Additionally, we determined a closely significant difference between normal tissueand tumor tissue of the PTEN gene (p = 0.0787) and blood and tissue samples of the APC gene in methylated promoterregions (p=0.0623). Furthermore, these results suggest that there is no significant relationship between the promotermethylation of PTEN and APC with clinical characteristics. Conclusion: DNA methylation deficiency is a well knownhighlighted factor in tumorigenesis, therefore the promoter hypermethylation of PTEN and APC can be indicated as arisk factor in endometrial neoplasms. 相似文献