發(fā)布時(shí)間：2018-05-23 12:26

  本文選題：結(jié)節(jié)性硬化癥 + 兒童　； 參考：《神經(jīng)解剖學(xué)雜志》2017年02期

【摘要】：目的:檢測(cè)結(jié)節(jié)性硬化癥(TSC)患兒TSC1,TSC2基因突變類型,探討其基因突變規(guī)律以及基因型與臨床表型關(guān)系,為TSC分子遺傳學(xué)研究提供資料。方法:收集2014~2016年徐州市兒童醫(yī)院神經(jīng)內(nèi)科門診及住院臨床診斷為TSC患兒24例,提取血液標(biāo)本的基因組DNA,二代基因測(cè)序技術(shù)(illumina/Solexa平臺(tái))進(jìn)行檢測(cè)。結(jié)果:(1)24例TSC患兒中23例檢測(cè)到基因突變,突變率95.83%,其中TSC1基因突變4例(4/23,17.39%),TSC2基因突變19例(19/23,82.61%),新發(fā)突變18例(18/23,78.26%)。(2)TSC基因突變類型包括移碼突變、錯(cuò)義突變、無(wú)義突變、剪切突變,大片段缺失,除2例患兒突變位點(diǎn)相同外,余均不相同。(3)TSC1基因突變患兒均為家族型,TSC2基因突變患兒5例為家族型(5/19,26.31%)。(4)癲癇發(fā)作類型TSC2基因突變患兒以痙攣發(fā)作為主(13/19,68.42%),TSC1基因突變患兒以局灶性發(fā)作為主(3/4,75.00%);癲癇3月完全控制率TSC2基因突變患兒為46.00%,TSC1基因突變患兒為75.00%,明顯高于TSC2基因突變患兒(P0.01)。(5)TSC2基因突變患兒中智力發(fā)育落后(15/19,78.94%)明顯多于TSC1基因突變患兒(1/4,25.00%,P0.01)。結(jié)論:TSC基因突變率較高,以TSC2為主,且無(wú)明顯突變熱點(diǎn),新發(fā)突變多見(jiàn)。TSC1基因突變以家族型為主,TSC2基因突變以散發(fā)型為主。TSC2基因突變患兒臨床表型相對(duì)TSC1基因突變患兒嚴(yán)重。
[Abstract]:Objective: to detect the mutation type of TSC1 and TSC2 gene in children with nodular sclerosis (TSC), explore the law of gene mutation and the relationship between genotypes and clinical phenotypes, and provide data for the study of TSC molecular genetics. Methods: 24 cases of TSC in the Department of Neurology in Xuzhou Children's Hospital and hospitalized in 2014~2016 were collected and the blood samples were extracted. Genomic DNA, two generation gene sequencing technology (illumina/Solexa platform) detection. Results: (1) 23 cases of 24 cases of TSC children detected gene mutation, the mutation rate was 95.83%, of which 4 cases of TSC1 mutation (4/23,17.39%), TSC2 gene mutation (19/23,82.61%), new mutation 18 cases (18/23,78.26%). (2) the type of TSC gene mutation, including the code shift mutation, error Mutation, nonsense mutation, shear mutation, large fragment deletion, except for the same mutation site in 2 cases, all of the children were family type, and 5 children with TSC2 gene mutation were family type (5/19,26.31%). (4) epileptic seizures type TSC2 mutations in children with spastic seizures mainly (13/19,68.42%), TSC1 gene mutations in children Focal seizures were mainly (3/4,75.00%); the total control rate of TSC2 gene mutation in children with total control in March was 46%, and that of children with TSC1 gene mutation was 75%, obviously higher than that of TSC2 mutation (P0.01). (5) the mental retardation (15/19,78.94%) in children with TSC2 gene mutation (15/19,78.94%) was more than that of TSC1 gene mutation (1/4,25.00%, P0.01). Conclusion: TSC gene The mutation rate was high, which was mainly TSC2, and there was no obvious mutation hot spot. The new mutation was mostly found in the family type.TSC1 gene mutation, and the TSC2 gene mutation in children with the main.TSC2 mutation was more serious than that of the TSC1 gene mutation in the children.
【作者單位】： 徐州醫(yī)科大學(xué)附屬醫(yī)院兒科;徐州市兒童醫(yī)院神經(jīng)內(nèi)科;
【基金】：江蘇省社會(huì)發(fā)展科技計(jì)劃 徐州市科技項(xiàng)目(KC14SH045)
【分類號(hào)】：R725.9

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本文編號(hào)：1924715