ABSTRACT
OBJECTIVE@#To identify pathogenic variants in two patients with suspected for Mowat-Wilson syndrome (MWS).@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patients and his family members, and gene variants were analysis by Trio-whole exome sequences and copy number variation sequencing.@*RESULTS@#Patient 1 was found to carried a de novo heterozygous c.2769C>A (p.Y923*) nonsense variant of ZEB2 gene. The variant was not found in his healthy parents and sister. Patient 2 carried a de novo heterozygous frameshift variant of the ZEB2 gene, namely c.315delC (p.A105Afs*3), which has not been previously reported. Both variants were predicted to be pathogenic and can lead to premature occurrence of stop codons.@*CONCLUSION@#The heterozygous c.2769C>A (p.Y923*) and c.315delC (p.A105Afs*3) variants of the ZEB2 gene probably underlay the pathogenesis in the two patients. Gene testing has facilitated confirmation of the diagnosis and genetic counselling.
Subject(s)
Humans , DNA Copy Number Variations , Facies , Hirschsprung Disease , Intellectual Disability/genetics , Microcephaly/genetics , Zinc Finger E-box Binding Homeobox 2/geneticsABSTRACT
This study was aimed to establish a separation method for neochlorogenic acid reference substances from Lonicera japonica. Refined neochlorogenic acid inL. japonica water extract was separated and concentrated by HPD200A macroporous resin, which was isolated and purified by medium-low-pressure preparative chromatography and determined by HPLC. The structure was identified by various spectroscopic data including ESI-MS,1H-NMR and13C-NMR. The results showed that the optimal purification technology conditions were as follows: washed with 5BV of water, collected elution, concentration, drying; neochlorogenic acid crude products were eluted with acetonitrile-0.5% formic acid solution (10:90) with the flow rate of 20 mL·min-1; and the detection wavelength was 326 nm. The contents of the prepared neochlorogenic acid reached to 98.86% and the yield was 89.1%. It was concluded that the method was effective for the preparation of neochlorogenic acid with high purity. It can be used to prepare the reference substances for quantitative analysis and content determination of Chinese materia medica.
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This article was aimed to study the chemical constituents in groups of effective components extracted from Xiaoxuming Decoction. Twelve compounds were isolated and purified by dynamic axial compression column chromatography. Their chemical structures were identified by spectral analysis. The results showed that twelve compounds were isolated and identified as octacosanoic acid(1), cetanol(2), oroxylin A(3), wogonin(4), baicalein(5), tetrandrine(6), fangchinoline(7), wogonoside(8), baicalin(9), paeoniflorin(10), amygdalin(11), manntol(12). It was concluded that all compounds were isolated from this compound prescription for the first time.
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Paeoniflorin and its derivatives are main active compounds inGui-Zhi Fu-Ling Capsule (GZFLC). In this study, molecular imprinted polymer (MIP) was prepared by sol-gel process to obtain paeoniflorin and its derivatives in GZFLC. The static adsorption capacity of MIP was measured by scatchard equation. The results showed that the maximum apparent absorbing capacity of MIP was 52.28 mg·g-1. One-step separation of paeoniflorin from 4 g methanol samples of GZFLC was 197 mg with the purity of 89.3%. It was concluded that paeoniflorin MIP can be used to separate phaoniforin and its analogues from GZFLC.
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In this article, an HPLC method for the contents determination of amino acids in Qihong Maitong injection was reported. In detailed, OPA-Fmoc pre-column derivatization was adopted, and related HPLC methods to determine the contents of amino acids was established. Linear relationship was well constructed for 17 amino acids through the method mentioned above. Briefly speaking, the optimized method was accurate and reproducible, and suitable for the determination of amino acids in Qihong Maitong injection and corresponding quality control.
ABSTRACT
This study was aimed to identify the main related substance in baicalein in order to provide basic study data for the safety, efficacy and quality control of the medicine. The analysis was carried out on activated carbon and silica gel column. The compound structure was identified by spectral analysis, which included UV, IR, NMR and MS. The results showed that the related substance was identified as oroxylin A. It was concluded that the determina-tion provided scientific data for studying the impurities of baicalein and improving its quality.