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AIM: To observe the efficacy of moderate and high myopia patients with vault greater than 1 000μm after implantation of phakic posterior chamber implantable contact lens(ICL).METHODS: A total of 42 patients(73 eyes)who received ICL implantation in the hospital and had postoperative vault greater than 1 000 μm between January 2014 and January 2017 were selected and retrospectively studied. Changes in visual acuity, intraocular pressure, corneal endothelial cell density, anterior chamber-related parameters(chamber angle, central anterior chamber depth, anterior chamber volume)and vault were compared among patients before surgery, at 1, 3, 6mo and 1a after surgery and at the last follow-up.RESULTS: The uncorrected visual acuity(UCVA)at 1, 3, 6mo and 1a after surgery and at the last follow-up was better than that before surgery(all P<0.05), and the chamber angle, central anterior chamber depth and anterior chamber volume were smaller or lower than those before surgery(all P<0.05), but there were no statistical differences in UCVA, chamber angle, central anterior chamber depth and anterior chamber volume at each time point after surgery(all P>0.05). The intraocular pressure at 1mo after surgery was lower than that before surgery(P<0.05), but the intraocular pressure at 3, 6mo and 1a after surgery and at the last follow-up was not statistically different from that before surgery(all P>0.05). There was no statistical significance in the corneal endothelial cell density at 1, 3, 6mo and 1a after surgery and at the last follow-up compared with that before surgery(all P>0.05). The vault at 1, 3, 6mo and 1a after surgery and at the last follow-up showed a decreasing trend, and the difference was statistically significant at each time point after surgery(all P<0.05).CONCLUSION: The short-term and long-term efficacy are better in moderate and high myopia patients with vault greater than 1 000 μm after ICL implantation, and there are no significant effects on the intraocular pressure and corneal endothelial cell. The postoperative anterior chamber structure is relatively stable and the vault tends to decrease over time. In most cases, close observation is sufficient and intraocular lens replacement is generally not required.
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A new siderophore chelate (1) and 8 known compounds were identified from the liquid co-cultures of the marine-derived Streptomyces sp. IMB18-531 and Cladosporium sp. IMB19-099 by a combination of chromatography methods, including C18 reversed-phase medium pressure chromatography, gel column chromatography and HPLC. Their structures were determined by spectroscopic analysis and chemical methods as aluminioxamine E (1), desferrioxamine E (2), ferrioxamine E (3), terragine E (4), capsimicin (5), cyclo(L-prolinyl-L-tyrosine) (6), anthranilic acid (7), (Z)-14-methylpentadec-9-enoic acid (8), and (Z)-hexadec-8-enoic acid (9). Compound 2 showed inhibitory activities against the expression of liver fibrosis related genes COL1A1, MMP2, and TIMP2. Compounds 5, 8, and 9 displayed antibacterial activities against methicillin-resistant Staphylococcus aureus, S. epidermidis and Bacillus subtilis, with MICs of 16-64 μg·mL-1. Compound 5 showed cytotoxicities against human pancreatic cancer MIA Paca-2 and human colon cancer HT-29 cell lines with IC50 of 2.9 and 6.3 μmol·L-1, respectively.
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Trichosporon fermentans can be used to treat refined soybean oil wastewater (RSOW) and produce microbial lipids. Bioflocculation is an effective method to recover Trichosporon fermentans which accumulates intracellular oils from wastewater. During the flocculation, the hydrodynamic distribution and parameters in the reactor are important limiting factors of yeast flocculation performance. In a 0.25 L flocculation device, it was found that the appropriate range of turbulence kinetic energy was within 0.00065-0.00073 m2/s2, the dissipation rate was within 0.119-0.317 m2/s3, and the shear force was less than 0.433 Pa by computational fluid dynamics. In this case, the flocculation rate (Fr) of Trichosporon fermentans could reach more than 90%. The empirical formula associated Fr of Trichosporon fermentans with hydrodynamic parameters was obtained by Matlab, and improved in the enlargement of flocculation device, displaying an error of less than 3.03%. A conical draft tube airlift circulating reactor for flocculation was designed based on the empirical formula, and the Fr reached 91.3%. The study shows that it is feasible to predict Fr of Trichosporon fermentans according to hydrodynamic parameters by numerical simulation, and design the industrial reactor for flocculation harvesting yeasts. It is also helpful for large-scale treatment of RSOW in a safe environment.
Subject(s)
Trichosporon , Wastewater , Flocculation , Geotrichum , Hydrodynamics , Soybean OilABSTRACT
Objective:To report embryonic testicular regression syndrome(ETRS) caused by DHX37 heterozygous variant for the first time in China and summarize the clinical manifestations of ETRS as to improve the understanding of doctors for this disease.Methods:The clinical data and whole exome sequencing results of five cases of ETRS from Shenzhen Children′s Hospital were collected. The reported cases of DHX37 heterozygous variant were reviewed.Results:Five patients with ETRS visited the doctors at the age of 2 months to 5 years and 5 months. Three patients raised as males came to hospital due to virilition and 2 female patients visited a doctor due to clitoral hypertrophy. No uterus was detected by ultrasound in all patients. The gonadal pathologies from 4 cases displayed no testicular tissue or gonadal dysgenesis, complicated with gonadoblastoma in one case. The genetic testing revealed that the heterozygous variant(c.923G>A, p. R308Q) in DHX37 was found in 2 cases, without variant in other 3 cases. According to the review, ETRS and 46, XY gonadal dysgenesis due to DHX37 herozygous variant was firstly reported in 2019. A total of 40 cases, including 21 cases of ETRS, presented with the virilition or female phenotype, with the disappearance of testicular tissue as the main pathologies. There is no report in China.Conclusion:The article summarized the clinical manifestations and whole exome sequencing results of 5 patients with ETRS, among which two cases were caused by DHX37 variants and one was complicated with gonadoblastoma.
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For decades, the edible mushroom Pleurotus eryngii (P. eryngii) has been cultivated as important raw materials for food and pharmaceutical industries in most of Asian countries, especially in China. Unfortunately, the generation and improvement of new cultivars are very difficult since there are many barriers which have not been solved thoroughly by gene editing tools, even though the CRISPR-Cas9 technique has been widely applied in other species. In this study, we identified the point-mutated variant of the endogenous sdhB gene (cbxr) as a more stable selection marker than hygromycin B resistance gene (hph) in P. eryngii. Furthermore, using a codon-optimized Cas9, a predicted native U6 promoter-guided sgRNA, as well as an optimized protoplast transformation system, a highly efficient pyrG gene editing system was established in P. eryngii, that incorporated varied insertions and deletions (indels) by non-homologous end joining (NHEJ) and homology-directed repair (HDR). Findings for a successful targeted gene editing strategy in the edible mushroom P. eryngii may open a new chapter for the improvement of edible mushroom cultivars.
Subject(s)
Fungal Proteins/genetics , Gene Editing/methods , Pleurotus/genetics , CRISPR-Cas SystemsABSTRACT
Objective:To investigate the effect of ionizing radiation on the N 6-methyladenine (m 6A) modification profile of circular RNA (circRNA) in mouse bone marrow cells and provide scientific basis for revealing the relationship between RNA epigenetic modification and hematopoietic radiation injury. Methods:A total of twenty four C57BL/6 J mice were randomly divided into two groups: the healthy control group ( n=12), and ionizing radiation group ( n=12) irradiated in total body with 4 Gy of 137Cs γ-rays. At 5 min after irradiation, mice were killed and bone marrow cells were collected from the femur. Total RNAs were extracted and the changes in circRNA m6A modification profiles were investigated by RNA immunoprecipitation-high-throughput sequencing (MeRIP-Seq) technology and bioinformatics analysis. The representative alterations of m 6A peaks were validated by MeRIP-PCR assay. Results:325 and 455 m 6A sites were identified on circRNAs in the healthy control group and ionizing radiation group (178 common sites, 147 specific sites in the healthy control group and 277 specific sites in ionizing radiation group), respectively. 1 275 and 1 017 deriving genes of m 6A-circRNAs were identified in the healthy control group and ionizing radiation group (767 common genes, 508 specific genes in the healthy control group and 250 specific genes in ionizing radiation group), respectively. Compared with the control healthy group, 414 (178) m 6A peaks was significantly up- (down-) regulated in the ionizing radiation group( P < 10 -10; fold-change cut-off > 5). Moreover, Gene Ontology (GO) assay revealed that the deriving genes of circRNAs with differentially methylated m 6A sites between two groups involves various functions including chromatin regulation, ciliary transition fiber and poly (A)-specific ribonuclease activity. Kyoto Encyclopedia of Genes and Genomes (KEGG) assay revealed that the deriving genes of circRNAs with differentially methylated m 6A sites between two groups included numerous pathways such as platelet activation, Fc γ R-mediated phagocytosis and B cell receptor signaling pathway. Conclusions:Ionizing radiation triggers rapid alterations in the m 6A modification profile of circRNA in mouse bone marrow cells. The deriving genes of differentially methylated circRNAs are associated with a variety of functions and signaling pathways of hematopoietic radiobiology.
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Objective:To investigate the vitamin D level of pulmonary tuberculosis patients in Qinghai Province, and to explore the correlation between vitamin D level and pulmonary tuberculosis.Methods:From May to September 2020, 208 bacterial confirmed pulmonary tuberculosis patients who were admitted to The 4th People′s Hospital of Qinghai Province were enrolled as the pulmonary tuberculosis group, and 129 healthy people who underwent physical examination during the same period were enrolled as the healthy control group. Independent sample t test and chi-square test were used for statistical analysis. Results:The deficiency rate of vitamin D was 11.06%(23/208) in the pulmonary tuberculosis group, which was higher than that (3.10%(4/129)) in the healthy control group, and the difference was statistically significant ( χ2=6.840, P=0.009). The vitamin D level was (56.84±20.03) μg/L in the pulmonary tuberculosis group, which was lower than that ((67.39±17.07) μg/L) in the healthy control group, and the difference was statistically significant ( t=5.154, P<0.01). The vitamin D levels were not different between the newly treated ((56.66±20.02) μg/L)) and retreated pulmonary tuberculosis patients ((59.11±20.81) μg/L) ( t=0.468, P=0.650). The vitamin D level of simple pulmonary tuberculosis patients ((57.82±20.01) μg/L) was higher than that of pulmonary tuberculosis patients combined with other diseases ((48.08±18.46) μg/L), and the difference was statistically significant ( t=2.132, P=0.034). Conclusion:Pulmonary tuberculosis is associated with decreased vitamin D levels, and patients with pulmonary tuberculosis are more likely to suffer from decreased or deficient vitamin D, which suggests clinicians considering the vitamin D status when treating pulmonary tuberculosis patients.
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In current study, we aimed to investigate whether the gentiopicroside (GPS) derived from Gentiana manshurica Kitagawa could block the progression of alcoholic hepatic steatosis to fibrosis induced by chronic ethanol intake. C57BL/6 mice were fed an ethanol- containing Lieber-DeCarli diet for 4 weeks. LX-2 human hepatic stellate cells were treated with GPS 1 h prior to transforming growth factor-β (TGF-β) stimulation, and murine hepatocyte AML12 cells were pretreated by GPS 1 h prior to ethanol treatment. GPS inhibited the expression of type I collagen (collagen I), α-smooth muscle actin (α-SMA) and tissue inhibitor of metal protease 1 in ethanol-fed mouse livers with mild fibrosis. In addition, the imbalanced lipid metabolism induced by chronic ethanol-feeding was ameliorated by GPS pretreatment, characterized by the modulation of lipid accumulation. Consistently, GPS inhibited the expression of collagen I and α-SMA in LX-2 cells stimulated by TGF-β. Inhibition of lipid synthesis and promotion of oxidation by GPS were also confirmed in ethanol-treated AML12 cells. GPS could prevent hepatic steatosis advancing to the inception of a mild fibrosis caused by chronic alcohol exposure, suggesting GPS might be a promising therapy for targeting the early stage of alcoholic liver disease.
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OBJECTIVE: To guide pharmaceutical manufacturing to pay full attention to and implement the quality control and overall requirements of preparation production based on the analysis of the revision work and major changes of the Dosage Forms General Chapters of the 2020 edition of the Chinese Pharmacopoeia. METHODSE: This article mainly introduces the compilation progress of the Dosage Forms General Chapters of the 2020 edition of the Chinese Pharmacopoeia. RESULTS: The analysis is helpful to improve the integrity, advancement and readability of the Dosage Forms General Chapters of the 2020 edition of the Chinese Pharmacopoeia. CONCLUSION: The improvement of the Dosage Forms General Chapters of the 2020 edition of the Chinese Pharmacopoeia will play an important role in improving the overall level of Chinese pharmacopoeia standards, strengthening drug quality control and improving drug quality.
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Lysine acetylation is critical in regulating important biological processes in many organisms, yet little is known about acetylome evolution and its contribution to phenotypic diversity. Here, we compare the acetylomes of baker's yeast and the three deadliest human fungal pathogens, Cryptococcus neoformans, Candida albicans, and Aspergillus fumigatus. Using mass spectrometry enriched for acetylated peptides together with public data from Saccharomyces cerevisiae, we show that fungal acetylomes are characterized by dramatic evolutionary dynamics and limited conservation in core biological processes. Notably, the levels of protein acetylation in pathogenic fungi correlate with their pathogenicity. Using gene knockouts and pathogenicity assays in mice, we identify deacetylases with critical roles in virulence and protein translation elongation. Finally, through mutational analysis of deactylation motifs we find evidence of positive selection at specific acetylation motifs in fungal pathogens. These results shed new light on the pathogenicity regulation mechanisms underlying the evolution of fungal acetylomes.
Subject(s)
Amidohydrolases/genetics , Cryptococcosis/microbiology , Cryptococcus neoformans/genetics , Cryptococcus neoformans/pathogenicity , Fungal Proteins/genetics , Protein Processing, Post-Translational , Acetylation , Amidohydrolases/metabolism , Animals , Aspergillus fumigatus/genetics , Aspergillus fumigatus/metabolism , Aspergillus fumigatus/pathogenicity , Candida albicans/genetics , Candida albicans/metabolism , Candida albicans/pathogenicity , Cryptococcosis/mortality , Cryptococcosis/pathology , Cryptococcus neoformans/metabolism , Disease Models, Animal , Female , Fungal Proteins/metabolism , Host-Pathogen Interactions/genetics , Humans , Lysine/metabolism , Mice , Mice, Inbred C57BL , Peptide Chain Elongation, Translational , Peptides/genetics , Peptides/metabolism , Proteomics/methods , Saccharomyces cerevisiae/genetics , Saccharomyces cerevisiae/metabolism , Survival Analysis , VirulenceABSTRACT
Objective: To establish a method for the determination of fractal dimension of ethanol precipitation flocs in two kinds of root medicinal herbs (Astragali Radix and Isatidis Radix). Method: The ethanol-precipitated flocs of Astragali Radix and Isatidis Radix were taken as the research objects. Firstly, the original microscopic images of the ethanol precipitation flocs were binarized by Ostu algorithm. Secondly, the influence of sampling volume, dilution multiple, image magnification ratio and number of image acquisition sites on fractal dimension was investigated using perimeter-area method. Result: The ethanol precipitation flocs of Astragali Radix and Isatidis Radix had fractal characteristics. At the same time, the stable and reliable fractal dimension of the flocs could be obtained when the sampling volume was 600-800 μL, the sample was diluted to 5-20 times, the microscopic image was enlarged to 200 times or 400 times, and four different image acquisition sites were selected. Conclusion: The established method is stable and feasible, which can provide reference for the fractal theory of ethanol precipitation flocs of root medicinal herbs.
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Hyperlipidemia is a key risk factor in inducing fatty liver, hypertension, atherosclerosis and cerebrovascular diseases. Previous studies have verified that polysaccharides from fruiting bodies (PEPE) of Pleurotus eryngii (king oyster mushroom) are capable of decreasing the lipid content. In this study, the P. eryngii polysaccharide is obtained by solid-state fermentation (PESF) using lignocellulosic wastes, corn-cobs and wheat bran. The high-performance liquid chromatography (HPLC) assays indicate that PESF has a similar composition to that of PEPE. Meanwhile, PESF has no detectable toxicity and is able to significantly inhibit foam-cell formation in murine macrophage cells (RAW264.7) induced by oxidized low-density lipoprotein. Further verification indicates that PESF has lipid-lowering effects during the lipid absorption phase in a zebrafish hyperlipidemia model. Our findings suggest that the P. eryngii polysaccharide from solid-state fermentation (PESF) can be used as a valuable lipid-lowering food additive or raw materials for producing lipid-lowering drugs.
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In this paper, the status of adjuvant standard for Chinese materia medica processing in the Chinese Pharmacopoeia 2015 edition, the National Specification of Chinese Materia Medica Processing, and the 29 provincial specification of Chinese materia medica was summarized, and the the status including general requirements, specific requirements, and quality standard in the three grade official specifications was collected and analyzed according to the "medicine-adjuvant homology" and "food-adjuvant homology" features of adjuvants. This paper also introduced the research situation of adjuvant standard for Chinese materia medica processing in China; In addition, analyzed and discussed the problems existing in the standard system of adjuvant for Chinese materia medica processing, such as lack of general requirements, low level of standard, inconsistent standard references, and lack of research on the standard, and provided suggestions for the further establishment of the national standards system of adjuvant for Chinese materia medica processing.
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Compared with traditional drying methods for Chinese materia medica, microwave drying technology is not only with the features of easy and convenient to operate, rapidity, good effects, well remained appearance of medicine and low energy consumption, but also with the feature of extraordinary sterilization effects at the same time with drying. This article introduced the features and effects of microwave drying and sterilization technology, reviewed its application in the TCM field, and proposed existing problems and prospects in the recent research by targeting security problems (microwave radiation and microwave residue).
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Objective To summarize the clinical manifestations of 46, XX ovotesticular disorder of sex development (DSD) caused by a NR5A1 heterozygous mutation. Methods The first case of 46,XX ovotesticular DSD was caused by a NR5A1 heterozygous mutation in China and was reported with a review of 11 similar cases in the literatures since July 2016. Results A 5. 6-year-old child raised as female was born with ambiguous genitalia. The left gonad was palpable in the inguinal region while the right one was located in abdomen. Gonadal histology showed both ovotestis. Vaginoscopy revealed a short, blind-ending vagina. No uterine was detected by laparoscopy. Repeated karyotype results were 46, XX with SRY gene negative. A heterozygous de novo mutation ( p. Arg92Trp) in the accessory DNA-binding region of NR5A1 gene was found in that child. Conclusions We reported for the first time in China a new phenotype caused by a NR5A1 heterozygous mutation-46,XX ovotesticular DSD. According to the review of literatures, such mutation seemed with incomplete penetrance. It could cause both 46, XX DSD and 46, XY DSD with varied manifestations. The possible underlying mechanism might relate to the impairment of the binding between the mutant protein and target DNA which might lead to a decreased inhibition of the male developmental pathway through downregulation of female antitestis genes.
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Compared with traditional drying methods for Chinese materia medica, microwave drying technology is not only with the features of easy and convenient to operate, rapidity, good effects, well remained appearance of medicine and low energy consumption, but also with the feature of extraordinary sterilization effects at the same time with drying. This article introduced the features and effects of microwave drying and sterilization technology, reviewed its application in the TCM field, and proposed existing problems and prospects in the recent research by targeting security problems (microwave radiation and microwave residue).
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Objective To summarize the clinical manifestations of 46, XX ovotesticular disorder of sex development (DSD) caused by a NR5A1 heterozygous mutation. Methods The first case of 46,XX ovotesticular DSD was caused by a NR5A1 heterozygous mutation in China and was reported with a review of 11 similar cases in the literatures since July 2016. Results A 5. 6-year-old child raised as female was born with ambiguous genitalia. The left gonad was palpable in the inguinal region while the right one was located in abdomen. Gonadal histology showed both ovotestis. Vaginoscopy revealed a short, blind-ending vagina. No uterine was detected by laparoscopy. Repeated karyotype results were 46, XX with SRY gene negative. A heterozygous de novo mutation ( p. Arg92Trp) in the accessory DNA-binding region of NR5A1 gene was found in that child. Conclusions We reported for the first time in China a new phenotype caused by a NR5A1 heterozygous mutation-46,XX ovotesticular DSD. According to the review of literatures, such mutation seemed with incomplete penetrance. It could cause both 46, XX DSD and 46, XY DSD with varied manifestations. The possible underlying mechanism might relate to the impairment of the binding between the mutant protein and target DNA which might lead to a decreased inhibition of the male developmental pathway through downregulation of female antitestis genes.
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<p><b>OBJECTIVE</b>To verify the clinical effect of the penetration acupuncture at the acupoints of governor vessel(GV) and bladder meridian on head for mild cognitive disorder after stroke.</p><p><b>METHODS</b>One hundred and ten patients were randomly divided into an observation group and a control group, 55 cases in each one. Penetration acupuncture was used at the acupoints of GV and bladder meridian on head in the observation group,namely Wuchu (BL 5) to Chengguang (BL 6) and Tongtian (BL 7) to Luoque (BL 8) bilaterally, and Shenting (GV 24) to Xinhui (GV 22), Qianding (GV 21) to Baihui (GV 20), Houding (GV 19) to Qiangjian (GV 18). Body acupuncture and conventional western medication were applied in the both two groups. Acupuncture was adopted once a day, five times a week and eight weeks totally. The changes of Montreal Cognitive Assessment (MoCA), Mini mental state examination scale(MMSE), self-rating depressive scale (SDS) and activities of daily living scale (Barthel index) were compared between the two groups before treatment, in the middle of treatment(at the forth week) after treatment(at the eighth week) and in three weeks after treatment(follow-up).</p><p><b>RESULTS</b>After treatment of four and eight weeks and at the time of follow-up, the results of MoCA, MMSE, SDS and Barthel index were apparently im proved compared with those before treatment in the two groups (all P < 0.01). After treatment of eight weeks and at the time of follow-up, the scores of MoCA and SDS were obviously improved in the observation group compared with those in the control group (P < 0.01, P < 0.05). The improvements of MMSE in the observation group were more marked than those in the control group at all times (P < 0.01, P < 0.05). But there was no statistical significance about the change of Barthel index between the two groups (all P > 0.05).</p><p><b>CONCLUSION</b>Penetration acupuncture at the acupoints of GV and bladder meridian on head can remarkablely improve the cognitive function of the patients with mild cognitive disorder after stroke,and have some efficacy of relieving the bad mood such as depression.</p>
Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Activities of Daily Living , Acupuncture Points , Acupuncture Therapy , Cognition , Cognitive Dysfunction , Drug Therapy , Psychology , Therapeutics , Combined Modality Therapy , Meridians , Stroke , Treatment OutcomeABSTRACT
<p><b>OBJECTIVE</b>To analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood leukocytes. The 39 exons and flanking sequences of the PCCA and PCCB genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>DNA sequencing has revealed that 7 patients have carried a PCCA gene mutation, 2 patients carried PCCB gene mutation and 1 patient carried mutations in both PCCA and PCCB genes. Ten PA mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene. Three PCCA mutations c.245G>A, IVS15+5del5, c.1288C>T and 2 PCCB mutations c.838insC, c.1087T>C were found for the first time.</p><p><b>CONCLUSION</b>Among Chinese patients with propionic acidemia patients, their genetic mutations are mainly found on the PCCA gene.</p>
Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Methylmalonyl-CoA Decarboxylase , Genetics , Mutation , Propionic Acidemia , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of Y9ASS1, ASL and SLC25A13 genes in four patients manifesting citrullinemia.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood leukocytes. Exons and their flanking sequences of the three genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>Based on DNA sequence analysis, one case was diagnosed with argininosuccinate synthetase deficiency, and the mutation type (ASS1 gene) was c.236C>T (p.S79F) + c.431C>G (p.P144R). Two cases were diagnosed with argininosuccinic aciduria (ASL gene), and their gene mutations were c.434A>G (p.D145G) + c.1366C>T (p.R456W) and c.331C>T (p.R111W) + IVS8+2insT, respectively. A thirteen months boy who carried a heterozygous 851del4 mutation (SLC25A13 gene) was diagnosed with citrullinemia adult-onset type II.</p><p><b>CONCLUSION</b>Through analysis of relevant pathogenic genes, four patients have been diagnosed.</p>
