本文關(guān)鍵詞： 微陣列芯片 先天性膈疝 ADAMA基因 拷貝數(shù)改變　出處：《臨床兒科雜志》2017年09期 　論文類型：期刊論文

【摘要】：目的通過對(duì)先天性膈疝胎兒多基因位點(diǎn)的檢測(cè),評(píng)價(jià)基因拷貝數(shù)變化與胎兒先天性膈疝之間的關(guān)系。方法采用Affymetrix Cytoscan 750 k平臺(tái)微陣列分析11例先天性膈疝新生兒的多基因位點(diǎn)(其中1例為雙胎,其異卵雙胞胎兄弟被診斷為胎兒腸擴(kuò)張)。結(jié)果在1例先天性膈疝新生兒中發(fā)現(xiàn)一個(gè)純合子缺失,8 p11.22 arr[hg19],并最終證實(shí)為解聚素和金屬蛋白酶(ADAM)3A基因的1~15外顯子發(fā)生純合缺失。結(jié)論 ADAM3A拷貝數(shù)的改變可能是先天性膈疝的發(fā)病原因。
[Abstract]:Objective to detect the polygenic loci of congenital diaphragmatic hernia fetus. To evaluate the relationship between gene copy number change and fetal congenital diaphragmatic hernia. Methods Affymetrix Cytoscan 750 was used. K platform microarray analysis of polygenic loci in 11 neonates with congenital diaphragmatic hernia (. One of them was a twin. The fraternal twins were diagnosed with fetal intestinal dilatation. Results A homozygous deletion of 8 p11.22 arr was found in a newborn with congenital diaphragmatic hernia. [Hg19]. The homozygous deletion of exon 1 / 15 of depolymerin and metalloproteinase-3 A gene was confirmed. Conclusion the change of ADAM3A copy number may be the cause of congenital diaphragmatic hernia.
【作者單位】： 上海交通大學(xué)醫(yī)學(xué)院附屬新華醫(yī)院;上海長(zhǎng)海醫(yī)院;
【基金】：上海交通大學(xué)醫(yī)學(xué)院附屬新華醫(yī)院集團(tuán)基金(No.12XJ2003)
【分類號(hào)】：R722.1
【正文快照】： 先天性膈疝(congenital diaphragmatic hernia,CDH)是一種危及生命的先天性缺陷,其新生兒發(fā)病率和死亡率都較高[1]。在美國(guó)一個(gè)隊(duì)列研究中發(fā)現(xiàn)CDH在1995年至2002年的發(fā)病率是0.193%[2]。CDH可分為三種主要類型:胸腹裂孔疝、胸骨后疝和食管裂孔疝[3],其中胸腹裂孔疝最為多見,而，

本文編號(hào)：1480720