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叶酸代谢与遗传学之间的神经管缺陷

Neural tube defects between folate metabolism and genetics.

作者信息

Alfarra Helmi Y, Alfarra Sabreen R, Sadiq Mai F

机构信息

Department of Biological Sciences, Yarmouk University, Irbid, Jordan.

出版信息

Indian J Hum Genet. 2011 Sep;17(3):126-31. doi: 10.4103/0971-6866.92082.

DOI:10.4103/0971-6866.92082
PMID:22345982
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3276979/
Abstract

Neural tube defects (NTDs) are the second most common severely disabling human congenital defects. Worldwide, NTDs incidence is approximately one per 1000 live births and varies between 0.78 and 12 per 1000 births in general populations. NTDs causation involves multiple genes, nutritional and environmental factors. Research in the next stage should include bigger populations and bigger studies that would be suitable to detect significant links and conclusions with relatively minor risk factors; analysis of multiple candidate genes to detect potential gene-gene interactions; detailed analysis of patient samples stratified by phenotype.

摘要

神经管缺陷(NTDs)是人类第二常见的严重致残先天性缺陷。在全球范围内,NTDs的发病率约为每1000例活产中有1例,在普通人群中每1000例出生的发病率在0.78至12例之间。NTDs的病因涉及多个基因、营养和环境因素。下一阶段的研究应包括更大规模的人群和更大型的研究,以适合检测与相对较小风险因素之间的显著关联和结论;分析多个候选基因以检测潜在的基因-基因相互作用;对按表型分层的患者样本进行详细分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cfbd/3276979/0a6cff2b5672/IJHG-17-126-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cfbd/3276979/c028c52a5d43/IJHG-17-126-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cfbd/3276979/0a6cff2b5672/IJHG-17-126-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cfbd/3276979/c028c52a5d43/IJHG-17-126-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cfbd/3276979/0a6cff2b5672/IJHG-17-126-g002.jpg

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本文引用的文献

1
Methionine synthase polymorphisms (MTR 2756 A>G and MTR 2758 C>G) frequencies and distribution in the Jordanian population and their correlation with neural tube defects in the population of the northern part of Jordan.甲硫氨酸合成酶基因多态性(MTR 2756 A>G和MTR 2758 C>G)在约旦人群中的频率和分布及其与约旦北部人群神经管缺陷的相关性。
Indian J Hum Genet. 2010 Sep;16(3):138-43. doi: 10.4103/0971-6866.73405.
2
Genetics of human neural tube defects.人类神经管缺陷的遗传学
Hum Mol Genet. 2009 Oct 15;18(R2):R113-29. doi: 10.1093/hmg/ddp347.
3
An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).
脊柱裂中45个叶酸相关基因的关联研究:立方体细胞素(CUBN)和天冬氨酸tRNA甲基转移酶1(TRDMT1)的作用
Birth Defects Res A Clin Mol Teratol. 2009 Mar;85(3):216-26. doi: 10.1002/bdra.20556.
4
Toward understanding the genetic basis of neural tube defects.迈向理解神经管缺陷的遗传基础。
Clin Genet. 2007 Apr;71(4):295-310. doi: 10.1111/j.1399-0004.2007.00793.x.
5
Neural tube defects in the Asir Region of Saudi Arabia.沙特阿拉伯阿西尔地区的神经管缺陷
Ann Saudi Med. 2001 Jan-Mar;21(1-2):26-9. doi: 10.5144/0256-4947.2001.26.
6
Etiology, pathogenesis and prevention of neural tube defects.神经管缺陷的病因、发病机制及预防
Congenit Anom (Kyoto). 2006 Jun;46(2):55-67. doi: 10.1111/j.1741-4520.2006.00104.x.
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