Zhang Y.,Kunming Medical University |
Zhang Y.,Yunnan Institute of Experimental Diagnosis |
Xue Q.,Kunming Medical University |
Xue Q.,Yunnan Institute of Experimental Diagnosis |
And 13 more authors.
Chinese Journal of Medical Genetics | Year: 2015
Objective To analyze genomic copy number variations (CNVs) in two sisters with primary amenorrhea and hyperandrogenism. Methods G-banding was performed for karyotype analysis. The whole genome of the two sisters were scanned and analyzed by array-based comparative genomic hybridization (array-CGH). The results were confirmed with real-time quantitative PCR (RT-qPCR). Results No abnormality was found by conventional G-banded chromosome analysis. Array-CGH has identified 11 identical CNVs from the sisters which, however, overlapped with CNVs reported by the Database of Genomic Variants (http://projects.tcag.ca/variation/). Therefore, they are likely to be benign. In addition, a - 8.44 Mb 9p11.1-p13.1 duplication (38 561 587-47 002 387 bp, hgl8) and a - 80.9 kb 4q13.2 deletion (70 183 990-70 264 889 bp, hgl8) were also detected in the elder and younger sister, respectively. The relationship between such CNVs and primary amenorrhea and hyperandrogenism was however uncertain. RT-qPCR results were in accordance with array-CGH. Conclusion Two CNVs were detected in two sisters by array-CGH, for which further studies are needed to clarify their correlation with primary amenorrhea and hyperandrogenism. Source
Li Q.,Kunming Medical University |
Li Q.,Yunnan Institute of Experimental Diagnosis |
Wu C.,Kunming Medical University |
Wu C.,Yunnan Institute of Experimental Diagnosis |
And 9 more authors.
Clinical Laboratory | Year: 2015
Background: Long noncoding RNAs (IncRNAs) play an important role in various biological processes involved the development and progression of lung cancer. However, their expression signature in Xuanwei lung cancer (XWLC) remains unknown. Methods: High throughput microarray assay was performed to detect IncRNA and niRNA expression profiles in five paired human XWLC and adjacent normal tissues. Bioinformatic analyses (gene ontology, pathway, and network analysis) were applied for further study of these differentially expressed mRNAs. An additional 33 paired XWLC samples were collected to verify the expression levels of 6 candidate IncRNAs using quantitative reverse transcription-polymerase chain reaction (qRT-PCR). Results: Using abundant and varied probes, about 37,000 IncRNAs and 34,000 mRNAs were assessed in our microarray. 1,484 IncRNAs and 1,997 mRNAs were differentially expressed in XWLC and adjacent normal samples (fold change ≥ 2.0). Using qRT-PCR validation, six candidate IncRNAs were differentially expressed in XWLC and adjacent normal tissues. The qRT-PCR results were consistent with the microarray data. Among these, FENDRR and SGOL1-AS1 were the most aberrantly expressed IncRNAs. Conclusions: This study firstly ascertained the expression profile of IncRNAs in XWLC by microarray. The results revealed that many IncRNAs were differentially expressed in XWLC and adjacent normal tissues. Further investigation of the differentially expressed IncRNAs may serve as new biomarkers for diagnosis of XWLC or novel therapeutic targets. Source