Establishing an RNA fusions panel in soft tissue sarcoma with clinical validation.

The diagnosis and classification of soft tissue sarcomas (STS) remain challenging because of the rarity and overlapping morphologic manifestations of diverse STS subtypes. Characteristic gene fusions are commonly detected in STS and represent useful diagnostic markers. This study established and validated a custom-designed RNA sequencing panel that identified 64 gene fusions in STS.

Germline Duplication of SNORA18L5 Increases Risk for HBV-related Hepatocellular Carcinoma by Altering Localization of Ribosomal Proteins and Decreasing Levels of p53.

Background & Aims: Single nucleotide polymorphisms could affect risk for hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC). We performed a germline copy number variation (CNV)-based genome-wide association study (GWAS) in populations of Chinese ancestry to search for germline CNVs that increase risk of HCC.

Methods: We conducted a CNV-based GWAS of 1583 HCC cases (persons with chronic HBV infection and HCC) and 1540 controls (persons with chronic HBV infection without HCC) in Chinese populations.

[Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].

Objective: To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU) from the Qinghai area of China, in order to provide basic information for genetic counseling and prenatal diagnosis.

Methods: Mutations of the PAH gene were detected in the promoter and exons 1-13 and their flanking intronic sequences of PAH gene by PCR and DNA sequencing in 49 children with PKU and their parents from the Qinghai area of China.

Results: A total of 30 different mutations were detected in 80 out of 98 mutant alleles (82%), including 19 missense (63%), 5 nonsense (17%), 3 splice-site (10%) and 3 deletions (10%).

Exposure to Hypoxia at High Altitude (5380 m) for 1 Year Induces Reversible Effects on Semen Quality and Serum Reproductive Hormone Levels in Young Male Adults.

This study investigated the effect of hypoxia at high altitude on the semen quality and the serum reproductive hormone levels in male adults. A total of 52 male soldiers were enrolled in this cohort study. They were exposed to hypoxia at high altitude (5380 m) for 12 months when undergoing a service.

Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.

To investigate the spectrum and frequency of phenylalanine hydroxylase (PAH) gene mutations in phenylketonuria (PKU) patients in Xinjiang, China. Polymerase chain reaction (PCR), in combination with single-strand conformation polymorphism (SSCP) and DNA sequencing analyses were performed, to screen potential mutations in the PAH gene in 46 individual PKU patients. Direct DNA sequencing was used to analyze the all of the exons in the PAH gene, including the promoter and flanking intron regions, in another 15 PKU patients.

[Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].

Objective: To investigate the type and frequency of mutations in exon 7 of phenylalanine hydroxylase (PAH) gene among children with phenylketonuria (PKU) in Ningxia, China and to provide a basis for the genetic diagnosis and prenatal diagnosis of PKU in this region.

Methods: Direct sequencing of PCR product was performed to analyze the sequences of exon 7 and its flanking introns of 146 PAH alleles in 73 children with typical PKU (39 cases of Hui nationality and 34 cases of Han nationality) in Ningxia.

Results: Six mutations were detected, including R243Q (14.

[Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].

Objective: To investigate the feature of phenylalanine hydroxylase (PAH) gene mutations and provide guidance for genetic and prenatal diagnosis of patients with phenylketonuria from Shaanxi.

Methods: For 55 patients whose blood Phe concentration was over 2.0 mg/dL, potential mutations in 13 exons and flanking sequences of the PAH gene were detected by PCR and DNA sequencing.

[Analysis for phenylalanine hydroxylase gene mutations in 35 ethnic Hui children from Ningxia with phenylketonuria].

Objective: To determine the type and frequency of phenylalanine hydroxylase gene (PAH) mutations in ethnic Hui patients from Ningxia with phenylketonuria (PKU).

Methods: For 35 PKU children patients and 50 healthy individuals, all exons and promoters of the PAH gene were analyzed with PCR and direct sequencing.

Results: Twenty mutations, including 8 missense mutations (40%), 5 nonsense mutations (25%), 4 splice site mutations (20%) and 3 deletion mutants (15%) were discovered.

[Lineage polymorphism of TCR Vα CDR3 in peripheral blood of uveitis patients].

Objective: To study the lineage polymorphism of TCR Vα complementarity determining region 3 (CDR3) in the peripheral blood of uveitis patients.

Methods: Thirty-four subfamilies of TCR Vα CDR3 in the peripheral blood mononuclear cells (PBMC) of uveitis patients were amplified by RT-PCR, and then TCR Vα CDR3 lineage polymorphism was analyzed by immunoscope spectratyping.

Results: Most spectral type of the 34 subfamilies in 5 normal controls showed Gauss distribution.

[Sperm DNA damage in young men working on the plateau].

Objective: To investigate whether long working in the high-altitude area can damage sperm DNA in men.

Methods: We enlisted 51 service men stationed on the plateau in an observation group and another 53 living in the low-altitude area in a control group. We detected and compared the damages to sperm DNA in the semen samples from the two groups using single cell gel electrophoresis and the sperm chromatin dispersion test.

[Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang].

Objective: To study the characteristics of the PAH gene mutation in patients with phenylketonuria (PKU) in Xinjiang area.

Methods: The mutations in exons 3, 5, 6, 7, 11 and 12 and the flanking intronic sequence of the PAH gene were detected by PCR/SSCP analysis and direct DNA sequencing in 46 PKU patients.

Results: Twenty different mutations were found in 68/92 alleles (73.

[Semen analysis of sterile patients among occupational computermen].

Objective: To explore temn possible correlation between the computer occupational semen quality.

Methods: We included in this study 224 sterile males (118 computermen and 106 non-computermen) treated in our clinic of male sterility and 125 normal fertile men as controls, and analyzed such parameters as semen liquefaction time and sperm density, vitality and motility according to the WHO standard.

Results: Compared with the normal controls, there was a significant decrease in the semen volume and sperm density, vitality and motility (P < 0.

[The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese].

Objective: To understand the mutant spectrum of phenylalanine hydroxylase (PAH) gene in Northern Chinese.

Methods: All the exons and flaking introns of PAH gene were detected by PCR-single strand conformation polymorphism (PCR/SSCP) and sequencing in 230 patients with phenylketonuria (PKU).

Results: (1) A total of 75 different mutations were detected in 435 out of 460 mutant alleles (94.

[Comparison of sperm parameters between male adults at different altitudes].

Objective: To investigate the influence of long-term anoxic exposure on the sperm function of male adults at different altitudes.

Methods: A total of 28 male adults that had stayed at the altitude of 5 340 m for 1-3 years were included as a high-altitude group (HAG), 34 at the mean altitude of 3 800 m for 2-5 years as a middle-altitude group (MAG) and 31 permanently at the altitude of 1 300 m as controls. Semen specimens were collected and the real-time semen analysis was performed by using computer-assisted semen analysis (CASA) system.

[Pro-apoptotic efficiencies of three reconstructed human caspase-8 on cervical cancer cell line HeLa].

Background & Objective: Apoptosis is a kind of evolutional high conservative cell death. Transferring high active pro-apoptotic molecules into cancer cells to induce apoptosis is a potential strategy for cancer gene therapy. Based on our previous generation of reconstructed human caspase-8, which can continuously induce apoptosis of cervical cancer cell line HeLa, by reversing its large and small subunits, this study was designed to investigate the pro-apoptotic efficiencies of 3 reconstructed human caspase-8 (Casp8CD, Rev8, and Rev8L) on HeLa cells, and to explore the feasibility of reconstructed human caspase-8 as potential apoptosis-inducing candidates.

[The chromosomal location of AD7C-NTP gene and the prediction of transmembrane domains of its deduced protein].

Aim: To characterize the chromosomal location of AD7C-NTP gene and predict the transmembrane domains and sub-cellular location of its deduced protein.

Methods: The AD7C-NTP mRNA sequence was alignmented with human genomic DNA sequence by Blat server. The transmembrane domains and sub-cellular location of AD7C-NTP protein were predicted by using PHDhtm, TMHMM2.