ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with developmental delay and congenital syndactyly.@*METHODS@#G-banding chromosomal karyotyping and chromosomal microarray analysis (CMA) were performed on peripheral blood sample from the child.@*RESULTS@#The child was ascertained as 46, XY, r(18)[52]/45,XY,?18[3]. A 18q21.32-q23 deletion was identified by CMA with a size of 19.85 Mb, which has encompassed 99 genes including CTDP1, TXNL4A, TSHZ1, PIGN, RTTN, TNFRSF11A, KDSR and CYB5A.@*CONCLUSION@#Clinical phenotype of the patient with ring chromosome 18 is associated with the size of the euchromatin loss and involved genes. As a useful complement to conventional karyotyping, CMA has provided an powerful tool for delineating complex chromosomal aberrations.
Subject(s)
Child , Humans , Chromosome Aberrations , Chromosomes, Human, Pair 18 , Genetics , Cytogenetics , Developmental Disabilities , Genetics , Karyotyping , Ring Chromosomes , Syndactyly , GeneticsABSTRACT
Objective@#To explore the genetic basis for a child with developmental delay and congenital syndactyly.@*Methods@#G-banding chromosomal karyotyping and chromosomal microarray analysis (CMA) were performed on peripheral blood sample from the child.@*Results@#The child was ascertained as 46, XY, r(18)[52]/45, XY, ? 18[3]. A 18q21.32-q23 deletion was identified by CMA with a size of 19.85 Mb, which has encompassed 99 genes including CTDP1, TXNL4A, TSHZ1, PIGN, RTTN, TNFRSF11A, KDSR and CYB5A.@*Conclusion@#Clinical phenotype of the patient with ring chromosome 18 is associated with the size of the euchromatin loss and involved genes. As a useful complement to conventional karyotyping, CMA has provided an powerful tool for delineating complex chromosomal aberrations.
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Objective To explore the effect of monosodium glutamate (MSG) on the expression of 5\|HT in gastroenteric mucosa of rat. Methods Immunohistochemical technique was used to detect the expression of 5\|HT. The immuno\|activity and the density of positive cells were measured by image analysis. Results The immuno\|activity and the density of 5\|HT positive cells(EC cell) in the experimental group are higher than that in control group. The effect by 120d is the most significant, followed by that of 52d. Statistical analysis showed a significant difference ( P
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Objective To investigate the relationship between the 5-lipoxygenase(5-LO) in mouse lung and during infection in the respiratory system.Methods Investigate the expression of 5-LO in the lung of a mouse by immunocytochemistry.Results The intensity of the immune staining against 5-LO antibody was stronger in infected mice than that in non-infected rats.A weaker immuneoreation was observed in the treated group of animals.Conclusion Changes in the expression of 5-LO in pulmonary tisssues could be designed to detect the treatment efficacy during the lung infection.
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AIM: To observe the expression of TGF ?1 in hepatocytes during acute hemorrhagic and necrotic pancreatitis (AHNP) and to study the relationship between TGF ?1 and apoptosis in hepatocytes. METHODS: AHNP was induced in 40 rats weighting 260-280 g by intraductal administration of 5% sodium taurocholate. The pathologic morphologic changes of liver and pancreas were observed under light microscope. The hepatocyte apoptosis was examined through TdT (terminal deoxynucleotidyl transferase) mediated dUTP nick end labeling (TUNEL) and the expression of TGF ?1 in hepatocytes was analyzed through immunohistochemistry. RESULTS: The liver injuries were found at 3 h after the inducement. These changes were aggravated with the development of the disease. The apoptotic hepatocytes were found after 3 h (P