The expression of ASAP3 and NOTCH3 and the clinicopathological characteristics of adult glioma patients.

ASAP3 is involved in a variety of biological activities, including cancer progression in humans. In adult glioma, we explore the effects of ASAP3 and NOTCH3 and their relationships on prognosis. The Oncomine, TIMER, and Gene Expression Profiling Interactive Analysis databases were used to investigate ASAP3 expression. Immunohistochemistry was used to assess the levels of ASAP3 and NOTCH3 expressions. The effects of ASAP3 and NOTCH3 on prognosis were assessed using survival analysis. The results revealed that the amount of ASAP3 mRNA in gliomas was much higher than in normal tissue (P < 0.01). Glioma patients with high ASAP3 mRNA expression had a worse overall survival and progression-free survival. ASAP3 overexpression is directly associated with the NOTCH signaling system. Immunohistochemistry revealed that ASAP3 and NOTCH3 were overexpressed in glioblastomas (GBMs). ASAP3 expression was associated with age, recurrence, tumor resection, postoperative chemoradiotherapy, World Health Organization (WHO) grade, and Ki-67 expression. ASAP3 expression was related to the isocitrate dehydrogenase-1 mutation in low-grade glioma. Gender, local recurrence, tumor resection, postoperative radio-chemotherapy, WHO grade, recurrence, and ATRX expression were all associated with NOTCH3 expression. ASAP3 was shown to be positively associated with NOTCH3 (r = 0.337, P = 0.000). Therefore, ASAP3 and NOTCH3 as oncogene factors have the potential to be prognostic biomarkers and therapeutic targets in adult glioma.

24 Y-chromosomal STR haplotypic polymorphisms for Chinese Uygur ethnic group and its phylogenic analysis with other Chinese groups.

The Uygur ethnic minority is the largest ethnic group in the Xinjiang Uygur Autonomous Region of China, and is a precious resource for the study of ethnogeny and forensic biology. Previous studies have focused on the genetic background of the Uygur group, however, the patrilineal descent of the group is still unclear. In this study, we investigated the genetic diversity of 24 Y-STR loci in the Uygur group and analyzed the population differentiations as well as the genetic relationships between the Uygur group and other previously reported populations using 17 Y-filer loci. According to haplotypic analysis of the 24 Y-STR loci in 109 Uygur individuals, 104 different haplotypes were obtained, 99 of which were unique. The haplotypic diversity and discrimination capacity of these 24 Y-STR loci in Uygur group were 0.9992 and 0.9541, respectively. An additional 7 loci (DYS388, DYS444, DYS447, DYS449, DYS522, and DYS527a,b) showed high genetic diversity and improved the overall discrimination capacity of the 24 Y-STR system. Pairwise Fst and neighbor-joining analysis showed that the Uygur group was genetically close to the Han populations from different regions.

Expression of Bmi-1 and PAI-1 in esophageal squamous cell carcinoma.

AIM: To determine the correlation between invasiveness, migration and prognosis in esophageal squamous cell carcinoma (ESCC) and expression of the B-cell-specific Moloney leukemia virus insert site 1 (Bmi-1) and plasminogen activator inhibitor-1 (PAI-1). METHODS: Eighty previously untreated patients who underwent surgical excision of ESCC were included. The expression of Bmi-1 and PAI-1 was examined immunohistochemically in formalin-fixed paraffin-embedded primary tissue specimens. The relationships between the expression of Bmi-1 and PAI-1, the clinicopathologic features of ESCC, and the survival rate of ESCC patients were also discussed. The correlation between Bmi-1 and PAI-1 protein expression in ESCC was analyzed. The relationship between Bmi-1 and PAI-1 expression and ESCC prognosis was evaluated using a Cox regression model and Kaplan-Meier survival curve analysis. RESULTS: The rates of positive Bmi-1 and PAI-1 expression in ESCC were higher than those in normal esophageal tissue (P < 0.05). The expression of Bmi-1 and PAI-1 was correlated with depth of invasion and lymph node metastasis (P < 0.05), but not with patient age, tumor size or nationality (P > 0.05). The expression of Bmi-1 was positively correlated with that of PAI-1 (P < 0.05). The 10-year overall survival rate for all patients was 20% (16/80). Univariate Kaplan-Meier survival analysis showed that patients with high expression of esophageal PAI-1 and Bmi-1 had lower survival, however, the difference was not statistically significant. Cox multivariate analysis showed that PAI-1 and Bmi-1 were not independent factors for survival rate, while the depth of tumor invasion and metastasis were independent factors affecting patient survival. CONCLUSION: The expression of Bmi-1 and PAI-1 plays a role in ESCC progression, and may be used as a prognostic marker in ESCC.

Genetic profile characterization and population study of 21 autosomal STR in Chinese Kazak ethnic minority group.

Short tandem repeat loci have been recognized as useful tools in the routine forensic application and in recent decades, more and more new short tandem repeat (STR) loci have been constantly discovered, studied, and applied in forensic caseworks. In this study, we investigated the genetic polymorphisms of 21 STR loci in the Kazak ethnic minority as well as the genetic relationships between the Kazak ethnic minority and other populations. Allelic frequencies of 21 STR loci were obtained from 114 unrelated healthy Kazak individuals in the Ili Kazak Autonomous Prefecture, Xinjiang Uigur Autonomous Region of China. We observed a total of 159 alleles in the group with the allelic diversity values ranging from 0.0044 to 0.5088. The highest polymorphism was found at D19S433 locus and the lowest was found at D1S1627. Statistical analysis of the generated data indicated no deviation from Hardy-Weinberg equilibriums at all 21 STR loci. In order to estimate the population differentiation, allelic frequencies of all STR loci of the Kazak were compared with those of other neighboring populations using analysis of molecular variance method. Statistically significant differences were found between the studied population and other populations at 2-7 STR loci. A neighbor-joining tree was constructed based on allelic frequencies of the 21 STR loci and phylogenetic analysis indicates that the Kazak has a close genetic relationship with the Uigur ethnic group. The present results may provide useful information for forensic sciences and population genetics studies, and can also increase our understanding of the genetic background of this group. The present findings showed that all the 21 STR loci are highly genetically polymorphic in the Kazak group, which provided valuable population genetic data for the genetic information study, forensic human individual identification, and paternity tests.

Identification of a novel human leukocyte antigen allele B∗46:34.

A new human leukocyte antigen (HLA) B allele was found in a healthy male Chinese Kazak individual. Sequencing-based typing (SBT) was used to identify and analyze the difference between the new allele and the closest matching HLA-B allele. HLA-B(∗)46 new allele has 1nt change from B(∗)46:01:01 at nt 853 where G->C (condon 260 GTA->CTA), resulting in a coding change: 260 Val is changed to Leu. The new HLA-B(∗)46:34 allele was identified, and was named officially by the World Health Organization (WHO) Nomenclature Committee in June 2012. The GenBank sequence accession number is JX035785.