[Cytogenetic and molecular characterization of partial trisomy 4q and partial monosomy 10q in a patient].

OBJECTIVE: To ascertain the karyotype of a girl with moderate mental retardation and growth retardation, perform correlation analysis between chromosomal variation and phenotype, and investigate the application and superiority of array-based comparative genomic hybridization (array-CGH) in clinical cytogenetic diagnosis. METHODS: G-banded chromosome analysis, array-CGH, fluorescence in situ hybridization (FISH) and real-time quantitative PCR (RQ-PCR) were used to ascertain the karyotype of the patient and her relatives. RESULTS: G-banding analysis of the patient showed a derivative chromosome 10 with an extra fragment on its long arm terminal, both her father and grandmother had an apparently balanced translocation t(4;10)(q25;q26). Array-CGH revealed that the breakpoint on chromosome 4 was located at 4q26. In addition, a microdeletion of about 0.54 Mb del(10)(q26.3) was identified from the patient. FISH and RQ-PCR confirmed that the del(10)(q26.3) was also present in both her father and grandmother. CONCLUSION: No recognizable phenotype was associated with del(10)(q26.3). The abnormal phenotypes presented in the patient may be ascribed to the 4q26-q35.2 triplication. Further more, compared with conventional cytogenetic analysis, array-CGH is of high resolution and high accuracy.

[Synthesis of PANI/TiO3 nanorods composites by reverse micelle template and their properties].

PANI/TiO2 nano-composites with different amount of nanometer TiOz were synthesized by using reverse micelle formed from cationic surfactant cetyltrimethyl ammonium bromide (CTAB) as the template. The structure and properties of PANI/TiO2 nano-composites were investigated by FTIR, UV-Vis, TG, TEM and photoluminescence spectroscopy. The self-assembly mechanism of PANI/TiO2 nanorods composites in reversed micelle was discussed briefly. The results indicate that the synthesized nano-composites are PANI/TiO2 nanorods with an average diameter and length around 30-40 nm and 400 nm respectively. The infrared spectrum shows that a strong interaction exists between PANI and TiO2 nano-particles. The thermal stability of PANI/TiO2 nanorods improves with the contents of TiO2 increasing. The absorption of PANI/TiO2 nano-composites was found to be very intense in the range of violet and visible light by UV-Vis spectrum. The fluorescence of PANI/TiO2 nanorods was excited at 416 nm, and the intensity of fluorescence was strengthened greatly with increasing TiO2 concentration. The mechanism of the strengthened fluorescence quantum efficiency and fluorescence intensity of PANI/TiO2 was investigated through the charge transfer and exciton dissociation in PANI/TiO2 nanorods composites.

[Identification of a novel candidate gene KLRC1 within the putative susceptibility locus for systemic lupus erythematosus at 12p12.3-13.2 in a Chinese cohort].

OBJECTIVE: To identify the candidate genes within the putative susceptibility locus for systemic lupus erythematosus (SLE) at 12p12.3-13.2. METHODS: KLRC1 was selected as the candidate gene according to the results of previous gene chip studies. TaqMan real-time quantitative PCR was performed for detecting KLRC1 mRNA expression in 55 SLE patients and 30 controls. RESULTS AND CONCLUSION: KLRC1 mRNA expression was significantly higher in the mononuclear cells and T cells of SLE patients than in the healthy controls (P<0.01), but showed no significant difference in the B cells. No obvious correlation was found between the SLE disease activity index (SLEDAI) and KLRC1expression level, suggesting that KLRC1 can be a probable candidate gene for SLE on 12p12.3-13.2, but which is not associated with the disease activity.