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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Role of ZIP14 (SLC39A14) gene histidine rich regions in neural tube defects
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Role of ZIP14 (SLC39A14) gene histidine rich regions in neural tube defects

机译：ZIP14（SLC39A14）基因组氨酸富集区在神经管缺损中的作用

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Neural tube defects (NTDs) comprise a group of congenital malformations that includes spina bifida, anencephaly, meningomyelocele and encephalocele. Reports have implicated zinc deficiency as one of the causative factors of NTDs. Both environmental and genetic factors are involved in the etiology of NTDs. Inadequate folate intake and nutritional deficiency are important environmental risk factors. The aim of this study was to determine the relation of a zinc related gene ZRT and IRT like protein 14 (ZIP14) and neural tube defects in Turkish patients. The case control study included seventy Turkish mothers who gave birth to NTD infants. Two hundred and thirty-nine healthy controls were consecutively selected without any congenital defects or familial NTD history. Following DNA extraction, PCR, SSCP and DNA sequencing analysis of exons of the ZIP14 gene were performed. Our data revealed that no relation of neural tube defects and ZIP14 was detected in Turkish NTD patients. Zinc deficiency have been reported as a risk factor for Turkish population and other possible zinc related gene defects may have importance.
机译：神经管缺陷（NTD）包括一组先天性畸形，包括脊柱裂，无脑，脑膜脊髓膜膨出和脑膨出。有报道称锌缺乏是NTDs的致病因素之一。 NTD的病因涉及环境和遗传因素。叶酸摄入不足和营养缺乏是重要的环境危险因素。这项研究的目的是确定锌相关基因ZRT和IRT样蛋白14（ZIP14）与土耳其患者神经管缺陷的关系。病例对照研究包括70名土耳其新出生婴儿的土耳其母亲。连续选择了239例健康对照者，没有任何先天性缺陷或家族性NTD病史。 DNA提取后，对ZIP14基因的外显子进行PCR，SSCP和DNA测序分析。我们的数据显示，在土耳其NTD患者中未发现神经管缺陷与ZIP14的关系。据报锌缺乏是土耳其人口的危险因素，其他可能的锌相关基因缺陷也可能很重要。

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