Objective:To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with intellectual disability.Methods:The proband with intellectual disability was diagnosed at Luohe Central Hospital in December 2019. Peripheral blood samples were collected from four family members. Whole exome sequencing (WES) was used to screen the pathological mutations. Then the PCR and Sanger sequencing were used to verify the selected mutations and combine the relevant database to analyze variation loci.Results:We infer that the ARX c.1162 A>G was co-segregated with the phenotype of the family based on the results of WES. The results of sanger sequencing and WES are consistent. The mother of the proband is the carrier of the mutation. There is no mutation frequency reported in the healthy population. The mutation of the ARX c.1162A>G is harmful inferred by a variety of bioinformatics software. Combined with the phenotypic analysis of OMIM database, we infer the phenotype caused by the mutation is consistent with the patients in the family.Conclusion:The mutation of the ARX c.1162 A>G may be the cause of the intellectual disability in the family affected. And the variant has not been reported in China.

Objective To analyse the effect of mobilization and collection's time of peripheral blood stem cells(PBSC) from 8 cases of healthy donors. Methods The 10 donors were studied by self-control design.The number of aphereses was two times every donors. Healthy donors received rhG-CSF according to two different PBSC collection starting time: group 1:PBSC collection was starts 2 hours(2 h) after the fourth day or the fifth day of rhG-CSF. group 2:PBSC collection was starts 4 hours(4 h) after the fourth day or the fifth day of rhG-CSF.(The first dose of rhG-CSF was given on day 1, considering day 0 as the day before starting mobilization). In this study we have compared with two groups of apheresis product. Results The MNC count was significantly higher for donors 4 h collection (groups 2) then 2 h. ( groups 1)(P

Allotransplantation of peripheral blood-derived hemopoietic stem cells is the best therapy for acute leukemia. With increases of only-child families, sibling donors are decreasing. Moreover, the probability is low and time consuming is long to search a matched hemopoietic stem cell donor from the Chinese Marrow Donor Program. Haploidentical stem cell transplantation would bring a hope for donor resource. However, difficult transplantation and high incidence of graft versus host disease are two risks. Based on modified regimen and cyclosporine A+short-term amethopterin, mycophenolic acid, interleukin-11, anti-lymphocyte immunoglobulin and hemopoietic stem cells mobilized by recombinant human granulocyte colony-stimulating factor can prevent graft versus host disease. This therapy succeeded in two cases with no severe graft versus host disease.

OBJECTIVE:To study curative effect of the combination of cyclosporine A,mycophenolate mofetil,anti-thymocyte globulin,interleukin-11 and short-term methotrexate as acute graft-versus-host disease(aGVHD) prophylaxis on HLA-matched unrelated donor or HLA-mismatched related donor allogenic peripheral blood stem cell transplantation(Allo-PBSCT).METHODS:Thirteen patients with haematological malignancies who underwent HLA-matched unrelated donor or HLA-mismatched related donor Allo-PBSCT with the combination of cyclosporine A as aGVHD prophylaxis at Haikou Municipal People's Hospital from September to November 2008 were selected,including 7 of unrelated donor,3 of haplotype transplantation,and 3 of 1-locus mismatched.The conditioning regimen was performed at 7 days prior to transplantation,with cyclosporine A 5-10 mg/(kg?d),12 hours per time with twice per day.From day 7 prior to transplantation,mycophenolic acid was intravenous drip once per day,then 2.5 mg/(kg?d) antithymocyte globulin at days 5-2 prior to transplantation,1.5 mg/d interleukin 11 was subcutaneous injected at day 2 prior to and 10 days after transplantation,followed by intravenous drip 15 mg/m2 amethopterin at day 1 and 10 mg/m2 at days 3,6,11 after transplantation.The drug doge was reduced and stopped gradually after 3-6 months,which could be prolonged for haplotype grafter.Recombinant human granulocyte colony-stimulating factor was injected subcutaneously at day 3 prior to transplantation,and PBSCT was collected at days 4 and 5 after medication,which was infused to patients with subclavian vein at the same day.In total(7.82-9.11)?108/kg mononuclearcell and(2.9-7.7)?106/kg CD34+ cells were infused.RESULTS:Hematopoiesis was rebuilt in all patients with 46.15%(6/13) aGVHD incidence rate,including 8 %(1/13) of Ⅲ-Ⅳ aGVHD.Up to April of 2009,all patients live and work as normal except one patient who can not visit public places.CONCLUSION:The combination of cyclosporine A,mycophenolate mofetil,anti-thymocyte globulin,interleukin-11 and short-term methotrexate is effective in the prevention of aGVHD.

Phospholipase Ds (PLDs) exist in many plants. PLDs catalyse the hydrolysis of phospholipids (e.g. phosphatidylcholine) in cell membrane into phosphatidic acid (PA) and polar free heads (e.g. choline). Two PLD members from rice, OsPLD3 and OsPLD4, were studied by reverse genetics approaches. The results showed that the promoters of OsPLD3 and OsPLD4 could drive the expression of the reporter gene in various tissues of the rice flower organs at different levels. The expression of both genes was induced by wounding and methyl jasmonate (MeJA), but with different intensity at different time intervals. No prominent phenotypes were observed by RNA interference with the gene-specific artificial miRNAs or over-expression of the target genes in rice plants, implying the functional redundancy among different members of the rice PLD family.
Acetates ; pharmacology ; Base Sequence ; Cyclopentanes ; pharmacology ; Flowers ; genetics ; metabolism ; Genes, Plant ; genetics ; Genes, Reporter ; genetics ; Molecular Sequence Data ; Oryza ; enzymology ; genetics ; Oxylipins ; pharmacology ; Phospholipase D ; genetics ; metabolism ; Promoter Regions, Genetic ; genetics

The preliminary role of calcineurin B-like protein-interacting protein kinases (CIPKs) in stress response is defined but the exact function of OsCIPK10 gene in rice stress response and its expression pattern yet unclear. In this study we explored the possible functions of OsCIPK10 gene by reverse genetics approaches and also revealed its expression pattern by GUS staining. From the preliminary study of this gene we presumed its function to assist plant to resist stress but over-expressed OsCIPK10 rice transgenic lines showed no significant phenotypic differences from the wild type either under high salt or low potassium conditions, however the gene knockdown plants using inverted repeat strategy presented meaningful healthy plants compared to wild type under the stress of salt. Further we checked the expression profile under high salt and low potassium conditions in wild type and found that OsCIPK10 decreases under high salt and increases on low potassium conditions. So we speculate that OsCIPK10 is actually going to function in response to high salt and low potassium stress. We also explored the expression pattern of this gene using Gus staining and found that gene expresses in all plant tissues, the only exception observed was its higher expression in the vascular tissues.
Cloning, Molecular ; Genes, Plant ; Oryza ; enzymology ; genetics ; Plant Proteins ; genetics ; metabolism ; Plants, Genetically Modified ; genetics ; metabolism ; Potassium ; pharmacology ; Protein-Serine-Threonine Kinases ; genetics ; metabolism ; RNA Interference ; RNA, Small Interfering ; genetics ; Salt-Tolerant Plants ; genetics ; Sodium Chloride ; pharmacology ; Stress, Physiological

Gene expression in rice roots under nutritional stress was studied using micro array techniques. The results showed that when re-supplied with sufficient amounts of nutrition after nutrition stress, the expression of OsPra2 (a small G protein which is homologous with Pea Pra2 protein) decreased in the plants root tissue. The cDNA sequence of the OsPra2 gene and its promoter, which is about 1 kb upstream of the translation origin point, was obtained using RT-PCR and PCR approaches. The OsPra2 protein contains four conserved GTP/GDP binding domains and specific domain of Rab small G protein family. The expression of OsPra2 and GST fusion protein in onion epidermal cells showed that OsPra2 protein was localized in the membrane and nucleus of the cell. The fusion expression of OsPra2 promoter and GUS reporter gene in transgenic rice suggested that the OsPra2 promoter allowed GUS expression in coleoptiles and roots. Compared with wild type rice, OsPra2 over expressed transgenic rice showed an obvious dwarf phenotype which resembles the BR deficient rice.
Amino Acid Sequence ; Base Sequence ; Cloning, Molecular ; Gene Expression Regulation, Plant ; Genes, Plant ; Molecular Sequence Data ; Oryza ; genetics ; metabolism ; Plant Proteins ; genetics ; metabolism ; Plants, Genetically Modified ; genetics ; metabolism ; Sequence Homology, Amino Acid ; rab GTP-Binding Proteins ; genetics ; metabolism

Objective:To analyze the clinical outcome of vitro fertilization/intracytoplasmic sperm injection-embryo transfer (IVF/ICSI-ET) in infertile patients with polycystic ovary syndrome (PCOS) combined with insulin resistance (IR) .Methods:A total of 257 PCOS infertile patients undergoing IVF/ICSI-ET from Jan. 2018 to Dec. 2020 were included and retrospectively analyzed. The patients were divided into IR group (HOMA-IR≥2.5, 130 cases) and non-IR group (HOMA-IR<2.5, 127 cases) according to the level (median 2.5) of homeostasis model assessment of insulin resistance index (HOMA-IR) . The levels of basic sex hormones [follicular stimulating hormone (FSH) , luteinizing hormone (LH) , estradiol (E2) , testosterone (T) , progestational hormone (P) , anti-mullerian hormone (AMH) ] and numbers of basic sinus follicles, levels of blood glucose and insulin at 30min, 60min and 120min after glucose administration and fasting and proconceptive pregnancy outcome indicators[gonadotropin (Gn) use time and dose, number of eggs obtained, fertilization rate, high-quality embryonic rate, occurrence rate of ovarian hyperstimulation syndrome (OHSS) , implantation rate, clinical pregnancy rate, biochemical pregnancy rate, abortion rate, live birth rate and pregnancy complications] were compared between the two groups. The influencing factors of clinical outcomes were analyzed by Logistic regression.Results:The levels of basic LH [ (8.86±1.60) mIU/ml vs (6.54±1.12) mIU/ml], T[ (63.20±7.47) ng/dl vs (52.11±5.69) ng/dl] in IR group was significantly higher than those in non-IR group ( P<0.05) . At different time-point, the levels of blood glucose and insulin in IR group were significantly higher than those in non-IR group ( P<0.05) . The Gn dose [ (1947.35±129.13) IU vs (1522.70±88.41) IU] and abortion rate [32.69% (17/52) vs 13.70% (10/73) ] in IR group was significantly higher than those in non-IR group ( P<0.05) , and the clinical pregnancy rate [40.00% (52/130) vs 57.48% (73/127) ] and live birth rate [51.92% (27/52) vs 72.60% (53/73) ] was significantly lower than those in non-IR group ( P<0.05) . Logistic regression analysis showed that age, BMI, basic LH, basic T and HOMA-IR was independent risk factors for clinical outcome of IVF/ICSI-ET in infertility patients with PCOS ( P<0.05) , and basic AMH and Gn dose were protective factors for clinical outcome ( P<0.05) . Conclusion:IR negatively affects the clinical outcome of IVF/ICSI-ET in infertile patients with PCOS, HOMA-IR is a risk factor for clinical outcomes, and IR should be evaluated in time for infertile patients with PCOS.