Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele.

IF 1.4 4区生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Acta biochimica Polonica Pub Date : 2023-10-26 DOI:10.18388/abp.2020_6729

Nageen Hussain, Saira Malik, Tayyaba Faiz, Fiza Shafqat, Ayaz Ali Khan, Taqweem Ul Haq, Waqar Ali, Tariq Aziz, Metab Alharbi, Abdulrahman Alshammari, Abdullah F Alasmari

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引用次数: 0

Abstract

Myelomeningocele (MMC) is a congenital disease. For a long time, molecular mechanism of MMC, the role of folate receptor and transporter proteins remain unclear. Folate from maternal lumen to developing embryo is carried out with the help of folate transporters (SLC46A1, SLC19A1, FOLH1 and SLC25A32) and folate receptor (FOLR1, FOLR2 and FOLR3). Due to the loss of function of these important genes, complications can facilitate the risk of MMC. This study focused on the mutational analysis of FOLR1 and FOLR2 genes in children suffering from MMC. Myelomeningocele is a rare disorder so twenty blood samples from the children were collected. Primers of selected exons for FOLR1 and FOLR2 genes were designed with the help of PrimerFox software. Extracted DNA was amplified, and PCR based mutational analysis was done to check any type of mutation/SNPs in these genes. Sanger sequencing method was performed to confirm mutation in FOLR1 and FOLR2 genes. The results showed that certain environmental factors (smoking, low socio-economic status of mother bearing MMC fetus) were found to be significantly (P<0.05) associated with MMC but no mutation in the selected exons of FOLR1 and FOLR2 genes was detected. Thus, genetic variations in the folate transporter gene may have no role in the progression of MMC in the studied population.

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儿童骨髓增生症FOLR1和FOLR2基因的突变分析。

骨髓增生症（MMC）是一种先天性疾病。长期以来，MMC的分子机制、叶酸受体和转运蛋白的作用尚不清楚。在叶酸转运蛋白（SLC46A1、SLC19A1、FOLH1和SLC25A32）和叶酸受体（FOLR1、FOLR2和FOLR3）的帮助下，从母体管腔到发育中的胚胎进行叶酸转运。由于这些重要基因的功能丧失，并发症会增加MMC的风险。本研究对MMC患儿的FOLR1和FOLR2基因进行突变分析。骨髓增生症是一种罕见的疾病，因此从这些儿童身上采集了20份血样。在PrimerFox软件的帮助下，设计了选定的FOLR1和FOLR2基因外显子的引物。扩增提取的DNA，并进行基于PCR的突变分析，以检查这些基因中的任何类型的突变/SNP。采用Sanger测序方法确认FOLR1和FOLR2基因的突变。结果表明，某些环境因素（吸烟、生育MMC胎儿的母亲社会经济地位低下）显著（P

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来源期刊

Acta biochimica Polonica 生物-生化与分子生物学

CiteScore

2.40

自引率

0.00%

发文量

审稿时长

4-8 weeks

期刊介绍： Acta Biochimica Polonica is a journal covering enzymology and metabolism, membranes and bioenergetics, gene structure and expression, protein, nucleic acid and carbohydrate structure and metabolism.