本文選題：男性精神發(fā)育遲滯　切入點(diǎn)：X染色體變異　出處：《遺傳》2017年06期 　論文類(lèi)型：期刊論文

【摘要】：精神發(fā)育遲滯(舊稱(chēng)智力低下)作為兒科神經(jīng)科常見(jiàn)的一組疾患,具有高度的遺傳和表型異質(zhì)性,大約25%~50%的精神發(fā)育遲滯是由遺傳因素引起的,其中X染色體基因/基因組變異占25%~30%,導(dǎo)致X連鎖的精神發(fā)育遲滯。X連鎖的精神發(fā)育遲滯患者占所有精神發(fā)育遲滯患者的10%~15%以上,約20%~25%的男性精神發(fā)育遲滯歸因于X連鎖的精神發(fā)育遲滯。精神發(fā)育遲滯男女患病比例為1.3:1,這與男性只有一條X染色體的遺傳背景有關(guān)。隨著新一代基因組檢測(cè)技術(shù)的快速發(fā)展和臨床應(yīng)用,尤其是全外顯子測(cè)序、高深度測(cè)序、X染色體深度測(cè)序和全基因組芯片雜交,這些大大改善了精神發(fā)育遲滯患者的X染色體基因/基因組變異檢出。本文綜述了致精神發(fā)育遲滯的X染色體基因組/基因變異特點(diǎn)、其對(duì)男性精神發(fā)育遲滯的致病性,以及如何采用新測(cè)序技術(shù)提高檢出率,旨在促進(jìn)科研人員認(rèn)識(shí)X染色體變異在男性精神發(fā)育遲滯的致病性,拓寬精神發(fā)育遲滯遺傳病因的認(rèn)識(shí),同時(shí)也為遺傳咨詢(xún)和產(chǎn)前診斷提供理論依據(jù)。
[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.
【作者單位】： 首都兒科研究所兒童發(fā)育營(yíng)養(yǎng)組學(xué)北京市重點(diǎn)實(shí)驗(yàn)室;
【基金】：國(guó)家自然科學(xué)基金面上項(xiàng)目(編號(hào):31671310) 北京市自然科學(xué)基金面上項(xiàng)目(編號(hào):7162029) 北京市百千萬(wàn)人才工程創(chuàng)新研發(fā)類(lèi)項(xiàng)目 首都衛(wèi)生發(fā)展科研專(zhuān)項(xiàng)項(xiàng)目(編號(hào):2014-2-1131)資助~~
【分類(lèi)號(hào)】：R749.94

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