X染色体变异对男性精神发育迟滞致病性的研究进展

发布时间：2018-03-14 06:17

本文选题：男性精神发育迟滞　切入点：X染色体变异　出处：《遗传》2017年06期 　论文类型：期刊论文

【摘要】：精神发育迟滞(旧称智力低下)作为儿科神经科常见的一组疾患,具有高度的遗传和表型异质性,大约25%~50%的精神发育迟滞是由遗传因素引起的,其中X染色体基因/基因组变异占25%~30%,导致X连锁的精神发育迟滞。X连锁的精神发育迟滞患者占所有精神发育迟滞患者的10%~15%以上,约20%~25%的男性精神发育迟滞归因于X连锁的精神发育迟滞。精神发育迟滞男女患病比例为1.3:1,这与男性只有一条X染色体的遗传背景有关。随着新一代基因组检测技术的快速发展和临床应用,尤其是全外显子测序、高深度测序、X染色体深度测序和全基因组芯片杂交,这些大大改善了精神发育迟滞患者的X染色体基因/基因组变异检出。本文综述了致精神发育迟滞的X染色体基因组/基因变异特点、其对男性精神发育迟滞的致病性,以及如何采用新测序技术提高检出率,旨在促进科研人员认识X染色体变异在男性精神发育迟滞的致病性,拓宽精神发育迟滞遗传病因的认识,同时也为遗传咨询和产前诊断提供理论依据。
[Abstract]:Mental retardation (formerly referred to as mental retardation) is a common group of disorders in pediatric neurology. It has a high degree of genetic and phenotypic heterogeneity. About 25% of mental retardation is caused by genetic factors. Among them, X chromosome gene / genome variation accounted for 25%, leading to X linked mental retardation. X linked mental retardation accounted for more than 10 15% of all patients with mental retardation. About 20% of male mental retardation is attributed to X-linked mental retardation. The prevalence of mental retardation is 1.3: 1, which is related to the genetic background of male having only one X chromosome. The rapid development of surgery and its clinical application, In particular, full exon sequencing, high depth sequencing, X chromosome deep sequencing and whole genome chip hybridization, These results greatly improve the detection of X chromosome gene / genome variation in patients with mental retardation. This paper reviews the characteristics of X chromosome genome / gene variation that cause mental retardation and its pathogenicity to mental retardation in men. And how to use the new sequencing technology to improve the detection rate in order to promote scientific researchers to understand the pathogenicity of X chromosome mutation in male mental retardation, and to broaden the understanding of genetic causes of mental retardation. It also provides theoretical basis for genetic counseling and prenatal diagnosis.
【作者单位】：首都儿科研究所儿童发育营养组学北京市重点实验室;
【基金】：国家自然科学基金面上项目(编号:31671310) 北京市自然科学基金面上项目(编号:7162029) 北京市百千万人才工程创新研发类项目首都卫生发展科研专项项目(编号:2014-2-1131)资助~~
【分类号】：R749.94

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