Entity

Time filter

Source Type


Chen Y.,Fujian Normal University | Chen Y.,Fujian Medical University | Chen G.,Fujian Medical University | Feng S.,Fujian Normal University | And 8 more authors.
Journal of Biomedical Optics | Year: 2012

Studies with circulating ribonucleic acid (RNA) not only provide new targets for cancer detection, but also open up the possibility of noninvasive gene expression profiling for cancer. In this paper, we developed a surfaceenhanced Raman scattering (SERS), platform for detection and differentiation of serum RNAs of colorectal cancer. A novel three-dimensional (3-D), Ag nanofilm formed by dry MgSO4 aggregated silver nanoparticles, Ag NP, as the SERS-active substrate was presented to effectively enhance the RNA Raman signals. SERS measurements were performed on two groups of serum RNA samples. One group from patients, n 55 with pathologically diagnosed colorectal cancer and the other group from healthy controls, n 45. Tentative assignments of the Raman bands in the normalized SERS spectra demonstrated that there are differential expressions of cancer-related RNAs between the two groups. Linear discriminate analysis, based on principal component analysis, generated features can differentiate the colorectal cancer SERS spectra from normal SERS spectra with sensitivity of 89.1 percent and specificity of 95.6 percent. This exploratory study demonstrated great potential for developing serum RNA SERS analysis into a useful clinical tool for label-free, noninvasive screening and detection of colorectal cancers. © 2012 Society of Photo-Optical Instrumentation Engineers (SPIE). Source


Yang Y.,Fuzhou Dongfang Hospital | Yang Y.,Fujian Medical University | Yang Y.,Xiamen University | Zhao F.,Fuzhou Dongfang Hospital | And 6 more authors.
Genetics and Molecular Research | Year: 2016

Mutations in the Wilms’ tumor gene, WT1, can lead to syndromic steroid-resistant nephrotic syndrome and isolated steroid-resistant nephrotic syndrome. WT1 mutations have been identified in the majority of children with Denys-Drash or Frasier syndrome. WT1 mutations have not previously been identified in boys with sporadic isolated steroid-resistant nephrotic syndrome, but, recently, four boys with isolated nephrotic syndrome were identified to have WT1 mutations. However, whether boys with sporadic isolated steroid-resistant nephrotic syndrome should be routinely subjected to mutation analysis of WT1 has not been established. We examined 35 boys with sporadic isolated steroid-resistant nephrotic syndrome for mutations in WT1. Mutation analysis of all 10 exons of WT1 was performed by polymerase chain reaction and direct sequencing. Karyotype analysis or Y chromosome identification was performed for all patients. A Y chromosome or a 46, XY karyotype was demonstrated for all 35 patients. No causative WT1 mutation was identified in any of the patients. The WT1 mutation, IVS4+14T>C, which is not predicted to affect splicing, was identified in one patient who achieved complete remission after 8 weeks of oral prednisone treatment, indicating that IVS4+14T>C is not a causative mutation. Five WT1 polymorphisms were also identified in some patients and controls. Our results suggest that mutation analysis of WT1 should not be routinely performed for genetically defined boys with sporadic isolated steroid-resistant nephrotic syndrome. © FUNPEC-RP. Source


Lan F.,Research Center for Molecular Diagnosis of Genetic Diseases | Wang Z.,Research Center for Molecular Diagnosis of Genetic Diseases | Xie H.,Research Center for Molecular Diagnosis of Genetic Diseases | Huang L.,Research Center for Molecular Diagnosis of Genetic Diseases | And 3 more authors.
Clinica Chimica Acta | Year: 2011

Background: X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by progressive demyelination of the nervous system, adrenocortical insufficiency and increase of very long chain fatty acids (VLCFAs) in the plasma and tissues. Methods: A total of 131 individuals from 30 Chinese pedigrees were involved in this study, including 42 symptomatic patients, 44 female carriers, and 15 high-risk fetuses from 13 families. The mutation was first pinpointed through long distance RT-PCR-based RNA approach and confirmed through peripheral blood DNA approach. Results: A total of 28 mutations were identified, of which 19 were missense, 3 nonsense and 6 frame-shift mutations. Thirteen mutations were novel, i.e. p.R280L, p.P580L, p.G343V, p.S108X, p.R259W, p.P534R, p.fs A246, p.L576P, p.K602X, p.A314P, p.N148D, p.H283R, and p.fs R89. Two mutations occurred de novo, for they were not found in somatic cells of their parents. Three females from the same family developed AMN-like symptoms and they were heterozygous for the p.H283R mutation. Four asymptomatic boys were diagnosed as X-ALD patients and prenatal molecular diagnosis were provided for 13 X-ALD-stricken families. Conclusions: Our work extended the spectrum of mutations in X-ALD and benefited genetic counseling through reliable identification of heterozygous females and asymptomatic males. © 2011 Elsevier B.V. Source


Ke L.-F.,Research Center for Molecular Diagnosis of Genetic Diseases | Wang Z.-H.,Research Center for Molecular Diagnosis of Genetic Diseases | Huang L.-H.,Research Center for Molecular Diagnosis of Genetic Diseases | Xie H.-H.,Research Center for Molecular Diagnosis of Genetic Diseases | Lan F.-H.,Research Center for Molecular Diagnosis of Genetic Diseases
Neuropediatrics | Year: 2010

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Up to now, more than 1 050 mutations have been reported in the ABCD1 gene, of which only 10 are multiple mutations in one allele of the gene. In this study, we report 2 novel multiple mutations in 2 patients with X-ALD from 2 unrelated Chinese families. Total RNA and genomic DNA were isolated from peripheral blood of the 2 patients, and the ABCD1 gene was analyzed by direct sequencing and denaturing high-performance liquid chromatography. We detected [p.Ser108X+p.Arg259Trp] in patient 1, [p.Lys217Glu+p.Val489Val] in patient 2 in one allele of the ABCD1 gene. Both novel multiple mutations have not previously been reported and this is the first report of multiple mutations identified in Chinese patients with X-ALD. © Georg Thieme Verlag KG. Source


Wang Z.,Research Center for Molecular Diagnosis of Genetic Diseases | Yan A.,Research Center for Molecular Diagnosis of Genetic Diseases | Lin Y.,Research Center for Molecular Diagnosis of Genetic Diseases | Xie H.,Research Center for Molecular Diagnosis of Genetic Diseases | And 2 more authors.
PLoS ONE | Year: 2013

Background: X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder caused by mutations in the ABCD1 gene. Approximately 20% of X-ALD female carriers may develop neurological symptoms. Skewed X chromosome inactivation (XCI) has been proposed to influence the manifestation of symptoms in X-ALD carriers, but data remain conflicting so far. We identified a three generation kindred, with five heterozygous females, including two manifesting carriers. XCI pattern and the ABCD1 allele expression were assessed in order to determine if symptoms in X-ALD carriers could be related to skewed XCI and whether skewing within this family is more consistent with genetically influenced or completely random XCI. Results: We found a high frequency of skewing in this family. Four of five females had skewed XCI, including two manifesting carriers favoring the mutant allele, one asymptomatic carrier favoring the normal allele, and one female who was not an X-ALD carrier. Known causes of skewing, such as chromosomal abnormalities, selection against deleterious alleles, XIST promoter mutations, were not consistent with our results. Conclusions: Our data support that skewed XCI in favor of the mutant ABCD1 allele would be associated with the manifestation of heterozygous symptoms. Furthermore, XCI skewing in this family is genetically influenced. However, the underlying mechanism remains to be substantiated by further experiments. © 2013 Wang et al. Source

Discover hidden collaborations