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Open access

Sumana Chatterjee, Emily Cottrell, Stephen J Rose, Talat Mushtaq, Avinaash V Maharaj, Jack Williams, Martin O Savage, Louise A Metherell and Helen L Storr

patients and control were compared using one-way ANOVA with Bonferroni correction. P   value of < 0.05 was taken as statistical significance. Genetic analysis by targeted gene sequencing Genomic DNA was isolated from peripheral blood leukocytes

Open access

Qiuli Liu, Gang Yuan, Dali Tong, Gaolei Liu, Yuting Yi, Jun Zhang, Yao Zhang, Lin-ang Wang, Luofu Wang, Dianzheng Zhang, Rongrong Chen, Yanfang Guan, Xin Yi, Weihua Lan and Jun Jiang

other tumors including RCC, Pheo, pancreatic tumors or cysts or epididymal cystadenoma without a positive family history of VHL disease ( 2 ). The patients’ gene sequencing results were compared with their medical records including CT or MRI scans, eye

Open access

Bruno Donadille, Muriel Houang, Irène Netchine, Jean-Pierre Siffroi and Sophie Christin-Maitre

gene sequencing revealed a 687del27 homozygous mutation, defined as a 27-bp deletion in exon IV, deleting the terminal base pair of codon 229 and the entire codons 230–237, in addition to the first two base pairs of codon 238. Functional in vitro

Open access

Mengxue Yang, Bowen Sun, Jianhui Li, Bo Yang, Jie Xu, Xue Zhou, Jie Yu, Xuan Zhang, Qun Zhang, Shan Zhou and Xiaohua Sun

Objectives

The pathogenesis of Graves’ disease (GD) remains unclear. In terms of environmental factors, GD development may be associated with chronic inflammation caused by alteration of the intestinal flora. This study explored the association of intestinal flora alteration with the development of GD among the Han population in southwest China.

Design and methods

Fifteen GD patients at the Affiliated Hospital of Zunyi Medical College between March 2016 and March 2017 were randomly enrolled. Additionally, 15 sex- and age-matched healthy volunteers were selected as the control group during the same period. Fresh stool samples were collected, and bacterial 16S RNA was extracted and amplified for gene sequencing with the Illumina MiSeq platform. The sequencing results were subjected to operational taxonomic unit-based classification, classification verification, alpha diversity analysis, taxonomic composition analysis and partial least squares-discriminant analysis (PLS-DA).

Results

The diversity indices for the GD group were lower than those for the control group. The GD group showed significantly higher abundances of Firmicutes, Proteobacteria and Actinobacillus and a higher Firmicutes/Bacteroidetes ratio than the control group. PLS-DA suggested the satisfactory classification of the flora between the GD group and the control group. The abundances of the genera Oribacterium, Mogibacterium, Lactobacillus, Aggregatibacter and Mogibacterium were significantly higher in the GD group than in the control group (P < 0.05).

Conclusions

The intestinal flora of GD patients was significantly different from that of the healthy population. Thus, alteration of intestinal flora may be associated with the development of GD.

Open access

Ling Zhou, Zhexin Ni, Wen Cheng, Jin Yu, Shuai Sun, Dongxia Zhai, Chaoqin Yu and Zailong Cai

Polycystic ovary syndrome (PCOS) is a chronic endocrine and metabolic disease. Gut microbiota is closely related to many chronic diseases. In this study, we conducted a cross-sectional study and recruited 30 obese (OG) and 30 non-obese (NG) women with PCOS, 30 healthy women (NC) and 11 healthy but obese women (OC) as controls to investigate the characteristic gut microbiota and its metabolic functions in obese and non-obese patients with PCOS. The blood and non-menstrual faecal samples of all the participants were collected and analysed. As a result, the Hirsutism score, LH/FSH and serum T level in NG and OG both increased significantly compared with their controls (P < 0.05). High-throughput 16S rRNA gene sequencing revealed that the abundance and diversity of the gut microbiota changed in patients with PCOS. The linear discriminant analysis (LDA) indicated that Lactococcus was the characteristic gut microbiota in NG, while Coprococcus_2 in OG. Correlation heatmap analysis revealed that the sex hormones and insulin levels in human serum were closely related to the changes in the gut microbiota of NG and OG. Functional prediction analysis demonstrated that the citrate cycle pathway enriched both in NG and OG, and other 12 gut bacterial metabolic pathways enriched in NG. This study highlighted significant differences in the gut microbiota and predictive functions of obese and non-obese women with PCOS, thereby providing insights into the role and function of the gut microbiota that may contribute to the occurrence and development of PCOS in obese and non-obese women.

Open access

Qiuli Liu, Lin-ang Wang, Jian Su, Dali Tong, Weihua Lan, Luofu Wang, Gaolei Liu, Jun Zhang, Victor Wei Zhang, Dianzheng Zhang, Rongrong Chen, Qingyi Zhu and Jun Jiang

shown in Fig. 2C . Figure 2 Gene sequencing data and family pedigrees. (A and B) Compound heterozygous mutations in CYP21A2 gene in family 1 (A) and in CYP17A1 gene in family 2 (B). (C and D) Pedigrees for families 1 (C) and 2 (D). The red

Open access

L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen and T R P Cole

steroidogenesis pathway is present, the yield from genetic testing had historically remained low, and with single-gene sequencing, was both costly and time consuming ( 4 ). Improvements in gene sequencing technology in conjunction with rapidly falling costs have

Open access

E Kohva, P J Miettinen, S Taskinen, M Hero, A Tarkkanen and T Raivio

Lambeth L Bouty A Knarston IM Tan TY , et al . Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort . Genome Biology 2016 17 243 . ( https://doi.org/10.1186/s13059-016-1105-y ) 27899157 10

Open access

Caojie Liu, Qingguo Lv, Xinlei Chen, Guangcheng Ni, Liru Hu, Nanwei Tong and Yuwei Zhang

further research gene sequencing and family heredity. There are several limitations in our study. First, the preoperative preparation strategy was determined by endocrinologists or operating surgeons based on previous studies and personal experience

Open access

Yiqiang Huang, Lin-ang Wang, Qiubo Xie, Jian Pang, Luofu Wang, Yuting Yi, Jun Zhang, Yao Zhang, Rongrong Chen, Weihua Lan, Dianzheng Zhang and Jun Jiang

2. Of note, all the mutations were further confirmed by Sanger sequencing. There was no mutation in the remaining susceptibility gene panel. Figure 3 Gene sequencing reveals mutations in the SDHB and SDHD gene. (A) The mutation c.343C>T in