Screening and verification of plasma biomarkers for stable angina pectoris: a differential proteomic analysis / 南方医科大学学报

<p><b>OBJECTIVE</b>To compare and analyze the differentially expressed plasma proteome between patients with stable angina pectoris (SAP) and healthy donors to identify the biomarkers for early diagnosis of SAP.</p><p><b>METHODS</b>Plasma samples from 60 patients with SAP and 60 healthy controls were collected. Twenty samples (100 mL each) randomly selected from each group were pooled and after removing high-abundance proteins from the pooled plasma, two-dimensional gel electrophoresis (2DE) was performed to isolate the total proteins. The protein spots with more than 2 fold changes were selected after 2D analysis using software, and the differentially expressed proteins were identified by MALDI TOF/TOF mass spectrometer. ELISA was performed to detect hemoglobin subunit delta (HBD) levels in 40 randomly selected samples from each group for verification of the results of 2DE.</p><p><b>RESULTS</b>A total of 7 differentially expressed proteins were found in plasma samples from patients with SAP, including 3 up regulated proteins (serum albumin, hemoglobin subunit alpha and hemoglobin subunit delta,) and 4 down?regulated ones (apolipoprotein L1, apolipoprotein C3, apolipoprotein E and complement C4B). ELISA results showed that HBD level was increased in SAP plasma, which was consistent with the results of 2DE.</p><p><b>CONCLUSION</b>Patients with SAP have different plasma protein profiles from those of healthy controls, and HBD may serve as a potential specific biomarker for early diagnosis of SAP.</p>

Strategies for exome sequence data analysis for discovering genes underlying autosomal recessive disorders / 中华医学遗传学杂志

Introduced in 2009, whole-exome sequencing (WES) is a technology in which target capture methods are used to enrich sequences of coding regions of genes from fragmented total genomic DNA, which is followed by high-throughput sequencing of the captured fragments. As reported, WES has been successfully applied for discovering genes underlying several Mendelian diseases, especially autosomal recessive types. In this review, authors have summarized the main computational strategies which have been applied to identify novel autosomal recessive diseases genes using whole-exome data.