作者：香港中文大学妇产科学系 史蒙蒙

Stroke & Vascular Neurology（SVN）最新上线文章“Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease”，来自我国香港中文大学妇产科学系董梓瑞、内科及药物治疗学系Thomas W Leung（共同通讯作者）团队。

Figure 1  Flowchart of this study. Detailed methods and results are described in the main text. A total of 92 patients with symptomatic ICAD were submitted to genome sequencing (60-folds). Variant analysis was performed and identified 59 SNVs/InDels (23 reported and 36 predicted). In addition, genome-wide analysis revealed seven likely ICAD-related aneuploidies (loss of Y chromosome)/CNVs (>50 kb) and one balanced translocation.

Figure 3  Identification of a balanced translocation in one patient. (A) Validation result by G-banded chromosome analysis (karyotyping) suggested a balanced translocation: 46,XY,t(15;22)(q24.2;q13.1). (B) Sequencing chromatograms of the breakpoint junctions. Sequences (from Sanger sequencing) of chromosomes 15 and 22 are highlighted in purple and pink, respectively. Inserted sequences and microhomozygous involved in the breakpoint junctions of the derivative chromosomes are also highlighted in green and yellow, respectively. (C) Breakpoints likely disrupted topological associated domain involving the PDGFB gene. Visualisation () of interaction between gene PDGFB and the other locations in the reported database. Distribution of topological associated domains (triangles in different scales of red indicate different levels of interactions). The breakpoint junction is shown in the green vertical bar. The location of PDGFB gene is indicated by a blue arrow, while two windows potentially involved in the interaction of PDGFB gene are indicated by two yellow arrows. (D): disruption of the interactions between DHSs and promoters of PDGFB by the breakpoints. Figure indicates the diagram of the cross-cell-type correlation between distal DHSs and promoters of gene PDGFB based on the reported map. X axis represents the genomic coordinate of each element (such as gene and promoter), while Y axis shows the value of each correlation (r>0.9, reflected by a red line) between distal DHSs (indicated by the black bar) and promoters (blue bar) of gene PDGFB (purple box). The breakpoint junction is also shown in the vertical bar.