埃及人群中的基因突变：遗传筛查策略的现状与未来展望 - Suppr

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Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.

作者信息

El-Seedy Ayman S, Shafiek Hanaa, Kitzis Alain, Ladevèze Véronique

机构信息

Department of Genetics, Alexandria UniversityAlexandria, Egypt.

EA3808, Groupe Génétique des Maladies Rares, Université de PoitiersPoitiers, France.

出版信息

Front Genet. 2017 Mar 31;8:37. doi: 10.3389/fgene.2017.00037. eCollection 2017.

DOI:10.3389/fgene.2017.00037

PMID:28408918

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5374144/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a9f/5374144/7d601eef9441/fgene-08-00037-g0001.jpg

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本文引用的文献

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt.埃及北部人群中囊性纤维化跨膜传导调节因子（CFTR）基因突变：对埃及基因诊断的意义。

Cell Mol Biol (Noisy-le-grand). 2016 Nov 30;62(13):21-28. doi: 10.14715/cmb/2016.62.13.5.

Mutation spectrum of Egyptian children with cystic fibrosis.埃及囊性纤维化患儿的突变谱

Springerplus. 2016 May 20;5(1):686. doi: 10.1186/s40064-016-2338-7. eCollection 2016.

Andrologia. 2016 Dec;48(10):1307-1312. doi: 10.1111/and.12563. Epub 2016 Mar 15.

Profile of cystic fibrosis in a single referral center in Egypt.埃及单一转诊中心的囊性纤维化概况。

J Adv Res. 2014 Sep;5(5):563-8. doi: 10.1016/j.jare.2013.07.005. Epub 2013 Jul 15.

Recommendations for the classification of diseases as CFTR-related disorders.疾病分类建议作为 CFTR 相关疾病。

J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102. doi: 10.1016/S1569-1993(11)60014-3.

Clinical, laboratory and genetic assessment of patients with congenital bilateral absent vas deferens.先天性双侧输精管缺如患者的临床、实验室及遗传学评估

Andrologia. 2011 Feb;43(1):16-22. doi: 10.1111/j.1439-0272.2009.01001.x. Epub 2010 Nov 28.

Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis.高危埃及儿童的囊性纤维化检测及CFTR基因突变分析

J Cyst Fibros. 2007 Apr;6(2):111-6. doi: 10.1016/j.jcf.2006.04.004. Epub 2006 Jul 11.

Cystic Fibrosis testing among Arab-Americans.美国阿拉伯裔人群中的囊性纤维化检测

Genet Med. 2006 Apr;8(4):255-8. doi: 10.1097/01.gim.0000214453.74456.f3.

Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population.在普通人群中，负责囊性纤维化的基因发生突变，且易患慢性鼻-鼻窦炎。

JAMA. 2000 Oct 11;284(14):1814-9. doi: 10.1001/jama.284.14.1814.

Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens.对囊性纤维化基因的分子分析显示，在患有先天性双侧输精管缺如的埃及男性中，内含子8剪接变体5T的出现频率很高。

Mol Hum Reprod. 1999 Jan;5(1):10-3. doi: 10.1093/molehr/5.1.10.

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