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首页> 外文期刊>American Journal of Obstetrics and Gynecology >Genetic variations in the GLUT3 gene associated with myelomeningocele
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Genetic variations in the GLUT3 gene associated with myelomeningocele

机译：与髓鞘膜膨出相关的GLUT3基因的遗传变异

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Objective Our objectives were to examine the extent of described sequence variation in the glucose transporter 3 (GLUT3) gene in children with myelomeningocele (MM), identify novel variations in the GLUT3 gene in these children, and determine whether these variations may confer a risk of MM. Study Design We sequenced the 10 exons of GLUT3, including exon-intron boundaries, on 96 children with MM. Sequencing was performed with Sanger methods and results analyzed with deoxyribonucleic acid analysis software. Frequencies of known single-nucleotide polymorphisms were identified, and those differing from the reference sequence (GRCh37/hg19 assembly) were considered variations. Results Six novel and 9 previously described, genetic variations were identified in our population. The novel variations included a large, 83 base pair deletion involving the core promoter region and part of exon 1 (1 of 96 children), and a 2 base pair deletion in the coding sequence of exon 4 (1 of 96 children). The remaining novel variations were located in the introns in the proximity of the splice sites. Novel mutations in GLUT3 were observed among 6.25% of our population. Additionally, the frequency of the rare allele for rs17847972 located in a splice donor site is higher (P <.001) in MM in our population than expected. Conclusion We identified previously undescribed deletions and single-nucleotide variations involving the GLUT3 gene that may be associated with increased susceptibility to MM. Of particular interest, the 2 deletions involve both an important core promoter site and a coding region predicted to have a deleterious effect. The functional significance of these findings is under investigation.
机译：目的我们的目的是检查脊髓膜腔积液（MM）患儿中葡萄糖转运蛋白3（GLUT3）基因中所述序列变异的程度，确定这些患儿中GLUT3基因的新变异，并确定这些变异是否可能带来患上脑膜炎的风险。 MM。研究设计我们对96例MM儿童的GLUT3的10个外显子进行了测序，包括外显子-内含子边界。用Sanger方法进行测序，并用脱氧核糖核酸分析软件分析结果。鉴定出已知单核苷酸多态性的频率，并将与参考序列（GRCh37 / hg19装配）不同的频率视为变异。结果在我们的人群中鉴定出六种新颖的和九种先前描述的遗传变异。新的变异包括涉及核心启动子区域和外显子1的一部分的一个大的83个碱基对的缺失（96个孩子中的1个）和外显子4的编码序列中的2个碱基对缺失（96个孩子中的1个）。其余的新颖变异位于剪接位点附近的内含子中。在我们人口的6.25％中观察到GLUT3的新突变。此外，在我们的人群中，位于剪接供体位点的rs17847972的罕见等位基因频率比预期的高（P <.001）。结论我们确定了先前未描述的涉及GLUT3基因的缺失和单核苷酸变异，这些变异可能与MM易感性增加有关。特别令人感兴趣的是，这2个缺失涉及一个重要的核心启动子位点和一个预测具有有害作用的编码区。这些发现的功能意义正在调查中。

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