Ting Guo

© 2015 The American Society of Human Genetics. The 22q11.2 deletion syndrome is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect, mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants outside the 22q11.2 deleted region might increase the risk of being born with a CHD in this sensitized population. Genotyping with Affymetrix SNP Array 6.0 was performed on two groups of subjects with 22q11DS separated by time of ascertainment and processing. CNV analysis was completed on a total of 949 subjects, 603 with CHDs and 346 with normal cardiac anatomy. Our analysis revealed that a duplication of SLC2A3 was the most frequent CNV identified in the first cohort. It was present in 18 subjects with CHDs and 1 subject without. In the second cohort, the SLC2A3 duplication was also significantly enriched in subjects with CHDs. The SLC2A3 duplication was the most frequent CNV detected and the only significant finding in our combined analysis, indicating that the SLC2A3 duplication might serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with 22q11DS.

As part of a larger project, this paper serves as an overview that examines how “ai” 愛 as an affective concept made its way into the Chinese vocabulary, how it gained popularity at specific junctures in modern Chinese history, and the ways in which it has been adapted as a marker of modernity and a political discourse in Republican and Communist China in distinct ways. Although literary scholars have noted the significance of the shaping of love as an affective concept for the project of Chinese modernity, they mainly focus on the conceptions and interpretations of love in the literature, and with a time frame from late imperial to Maoist China. The few studies about love in post-Mao era usually attribute the sources of such affect to Christianity. My paper makes a fresh contribution in three aspects. First, I take a longer historical perspective, from the 1910s to the 2010s, and dedicate, secondly, a large part of my study to the decisive impact from revolutionary radicalism to popular religions on the formation of the discourse of state propaganda and everyday politics, rather than manifestations in the literature and sources from Christianity. Third, I study some of the most controversial political figures in modern China, including Sun Yat-sen, Mao Zedong, and Xi Jinping, rather than intellectuals and writers only.