ABSTRACT
The use of whole exome sequencing (WES) for the detection of disease-causing variants of genetic diseases and for non-invasive prenatal screening (NIPS) of fetal aneuploidies are two major clinical applications of next generation sequencing (NGS). This article has summarized the official documents developed and updated by the American College of Medical Genetics and Genomics (ACMG) on governing WES and NIPS. These include the development of expert consensus policies and position statements on an ongoing basis to guide clinical application of NGS technology and variant analysis, establish evidence-based practical resources, as well as standards and guidelines to govern diagnosis and screening. These ACMG documents are valuable references to Chinese geneticists, but direct adoption of these standards and guidelines may not be practical due to the differences in disease-associated variant frequencies in Chinese population, socioeconomic status, and medical practice between the two countries. It is hoped that this review could facilitate the development of NGS and NIPS standards and guidelines that are consistent with international standards and concordant with medical genetics practice in China to provide high-quality, efficient and safe clinical services for patients and their families with genetic diseases.
Subject(s)
Female , Humans , Pregnancy , China , Consensus , Genomics , High-Throughput Nucleotide Sequencing , Technology , United StatesABSTRACT
Objective To investigate the effects of Dermatophagoides pteronyssinus ( Der p) on the expression of TLR4 and IL-4 in P815 mast cells and to further analyze the immunoregulatory effects of 1,25-(OH)2D3 on Der p treated P815 mast cells.Methods Different concentrations of Der p and 1,25-( OH) 2 D3 were used alone or in combination to stimulate P815 mast cells.The supernatants of the stimulated cell culture were analyzed by enzyme-linked immunosorbent assay ( ELISA) for the detection of IL-4.The stimulated cells were collected and analyzed by real-time PCR and Western blot assays for the detection of TLR4atmRNAandproteinlevels,respectively.Results (1)TLR4expressionwasdetectedinP815 cells.The expression of TLR4 was enhanced in P815 cells treated with various concentrations of Der p.A significant dose-dependent up-regulation of TLR4 was observed in P815 cells after incubation with Der p for 36 h.(2) Der p promoted the release of IL-4 in P815 cells (P0.05).(4) 10-8 mol/L of 1,25(OH)2D3 promoted the Der p-induced expression of TLR4 in P815 cells (P<0.01).However, 1,25(OH)2D3 inhibited the release of IL-4 in a dose-dependent manner(P<0.05orP<0.01).Conclusion (1)Derpcouldpromotetheinflammationandallergicreac-tion through up-regulating TLR4 and IL-4 in mast cells.(2) The possible mechanism for the inhibitory of 1, 25(OH)2D3 on Der p-induced immune responses was due to the suppression of Th2-type immune responses through inhibiting the synthesis and secretion of IL-4 in mast cells.
ABSTRACT
In the measurement of the forced oscillation respiratory impedance, we designed a narrow-band second-order band-pass comb filter which is centered at the forced oscillation frequencies for eliminating the interference of spontaneous breathing. The result shows that an increase of signal-to-noise ratio (SNR) reaches 6.0 dB, and keeps it almost constant over the whole frequency band when compared with a conventional high-pass filtering. So we can assess correctly the impedance of respiratory system.
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AIM: To investigate the correlation between the signal pathway of IKK/NF-?B and the anti-oxidant activity in asthmatic rats and the modulation of Ginkgo biloba extract (Egb). METHODS: Thirty-six male SD rats were randomly divided into three groups: control group (group C), asthmatic group (group A) and Egb group(group E). Asthma in rats was established by ovalbumin (OVA) challenge methods. The mRNA of IKK? and the protein of NF-?B P65 in lung tissue were assessed by using in situ hybridization with oligonucleotide probe and immunohistochemisty, respectively. RESULTS: The expression of IKK? mRNA and NF-?B P65 protein in group A were significantly increased when compared with group C (P
ABSTRACT
AIM: To study the effect of signal transducer and activator of transcription 6 (STAT6) on airway inflammation of rats with asthma. METHODS: Male Sprague-Dawley rats were randomly divided into control group and asthma group. The lung tissue was sampled from the left lung. Bronchoalveolar lavage fluid (BALF) was collected from the right lung. The concentrations of IL-4 in serum and BALF were measured by sandwich ELISA. STAT6 protein and STAT6 mRNA were observed in the epithelial cells of bronchus by the technique of immunohistochemistry and in situ hybridization. RESULTS: (1) The concentrations of IL-4 in BALF and serum of asthma group were significantly higher than those in control group (P