Enrichment and Identification of Metallothionein by Functionalized Nano-Magnetic Particles and Matrix Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry / 分析化学

Metallothionein ( MT) is a low-molecular-weight protein with high inducibility and binding ability with metal ions. Therefore, MT is often regarded as an important biomarker for assessment of heavy metal pollution in water environment. But the traditional process of its enrichment and identification is time-consuming and complicated. Herein, we prepared a core-shell nanoparticle, gold-coated iron oxide nanoparticles ( Fe3O4@Au NPs) . The nanoparticle possessed the advantages such as fast response to magnetic fields and optical properties attributing to Fe3O4and Au nanoparticles separately. Fe3O4@Au nanoparticles were used to enrich MT simply through Au-S interaction, and the purified proteins were determined by matrix assisted laser desorption ionization time-of-flight mass spectrometry ( MALDI-TOF/MS) . The results in this work showed that the Fe3O4@Au nanoparticles could directly enrich MT from complex solutions and the detection limit could be down to 10 fg/mL.

Analysis of ring chromosome 9 syndrome with fluorescence in situ hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the mechanism of the ring chromosome 9 formation by cytogenetic analysis of one case affected with ring chromosome 9 syndrome.</p><p><b>METHODS</b>Routine chromosome GTG-binding analysis and dual-color fluorescence in situ hybridization (FISH) with TelVision 9p and 9q probes were applied to characterize the case.</p><p><b>RESULTS</b>The G-binding revealed that the patient had ring chromosome 9 with the following karyotype: 45,X,-9/46,XX,r(9)(p24q34)/46,XX,r(9;9)(p24q34;p24q34)[4/92/4]. The dual-color FISH analysis with TelVision 9p and TelVision 9q probes failed to detect a hybridization signal on the ring chromosome in the case, which indicated that at least 115 kb were deleted on the terminal 9p and 95 kb were deleted on the terminal 9q. Comparing to the cases reported in the literatures, our patient shared some common features of the 9p- and 9q- syndrome.</p><p><b>CONCLUSION</b>The clinical features of patients with identical r(9) breakpoints present variable phenotypes. The possible cause might be the submicroscopic variation in the deletion breakpoints, variation in the ring stability, the modification of the expression of the deleted by the individual's genetic background, or the effect of changes in the fetal environment. The haploinsufficiency of genes located in the deleted regions may play critical roles in the patient phenotype as well.</p>

Analysis of the small supernumerary marker chromosome in Turner syndrome with 45, X/46, X, + mar karyotype / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the origin and study the morphology of small supernumerary marker chromosome (sSMC) in Turner syndrome with 45, X/46, X, + mar karyotype.</p><p><b>METHODS</b>Using the conventional chromosome G-banding technique, 10 cases of Turner syndrome with 45, X/46, X, + mar chromosome karyotype were obtained, dual-color fluorescence in situ hybridization was applied to study the origin and morphology of the sSMC.</p><p><b>RESULTS</b>In the 10 cases of Turner syndrome with 45, X/46, X, + mar karyotype, the sSMC of 7 cases was derived from X chromosome [sSMC(X)], the sSMC of 2 cases was derived from Y chromosome [sSMC(Y)] and the remaining 1 case was derived from the autosome. There were 4 cases of ring(r) chromosomes and 3 of centric minutes (min) in the 7 sSMC (X) cases. In the 2 sSMC(Y), one case was dicentric (dic) and the other was centric minute (min). The sSMC originated from the autosome was a centric minute (min).</p><p><b>CONCLUSION</b>The origin of sSMC of Turner syndrome with 45, X/46, X, + mar karyotype was almost all from sex chromosomes, and rarely from autosomes. sSMC can exist as isodicentric, ring, or centric minute. The molecular cytogenetic features of the sSMC can provide useful information for genetic counseling, prenatal diagnosis and treatment of the Turner syndrome patients with a 45, X/46, X, + mar karyotype.</p>

Immunohistochemical Expression of Hirschsprung′s Disease / 实用儿科临床杂志

Objective To investigate the expressions of protein gene product 9.5 (PGP 9.5),cathepsin D(CAD) and S-100 protein(S100) and their significance in the colon of the patients with hirschsprung′s disease(HD).Methods Thirty stenotic segments from children with HD and 35 controls were stained for PGP 9.5 and CAD and S100 by immunohistochemistry.The expressions were observed by imaging analysis system.Results 1.In the controls,CAD was only positive to ganglionic cells,which could be observed in myenteric and submucosal plexuses.Schwann cells and perineural satellite cells and nerve fibers were positive to PGP 9.5 and S100,ganglionic cells were positive to PGP 9.5,and were stained negative to S100,which left "cells-like blank area" in the plexuses.2.In the stenotic segments of HD,neither CAD-positive and PGP 9.5-positive neurons nor "cell-like blank area" in S100 staining were found in the plexus.The PGP 9.5 and S100 positive fibers were proliferated obviously in number.There were obvious differences in the density of the S100 stained nerve fibers and the fiber sizes between the controls[169.25?9.53;(23.15?5.56) ?m ] and the stenotic segments of HD[146.70?10.87;(57.81?14.99) ?m](all P