Parent-of-origin effects in Turner Syndrome patients
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Turner Syndrome patients have a single X chromosome, without a partner, X or Y. It has been suggested that the inheritance of the maternal X or paternal X may affect the severity of Turner Syndrome, as well as the incidence of mental disorders in Turner Syndrome individuals. Parental imprinting on the X chromosome may lead to different phenotypic variations in Turner Syndrome patients. In this project, we conduct an analysis of the current state of research on Turner Syndrome, and review the evidence for an effect of maternally inherited versus paternally inherited X chromosomes for both physical and psychiatric traits. We conducted a literature search to compile data and information about Turners Syndrome into one place with the goal of clarifying the parent-of-origin effects in Turner Syndrome.
特纳综合征(Turner Syndrome)患者仅携带一条X染色体,无配对的X或Y染色体。已有研究表明,母源X染色体或父源X染色体的遗传方式,可能会影响特纳综合征的病情严重程度,以及患者精神障碍的发病风险。X染色体上的亲本印记(parental imprinting)效应,可能导致特纳综合征患者出现不同的表型变异。本研究首先对特纳综合征领域的现有研究现状进行了梳理分析,并综述了母源遗传与父源遗传的X染色体对患者躯体与精神性状产生影响的相关证据。本研究通过文献检索,将特纳综合征相关的各类数据与资料整合归集,旨在阐明特纳综合征中的亲本来源效应(parent-of-origin effects)。




