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The prevalence of common CFTR gene mutations and polymorphisms in infertile Iranian men with very severe oligozoospermia.伊朗严重少精子症不育男性中常见 CFTR 基因突变和多态性的流行情况。
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CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.CFTR 变体与先天性单侧输精管缺如（CUAVD）男性的肾脏异常：观察性研究的系统评价和荟萃分析。
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A Survey of the Common Mutations and IVS8-Tn Polymorphism of Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Men with Nonobstructive Azoospermia and CBAVD in Iranian Population.伊朗人群中梗阻性无精子症和先天性双侧输精管缺如的不育男性囊性纤维化跨膜传导调节基因常见突变及IVS8-Tn多态性的调查
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Screening of Two Neighboring Mutations in Iranian Infertile Men with Non-Obstructive Azoospermia.伊朗非梗阻性无精子症不育男性中两个相邻突变的筛查
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本文引用的文献

1
Defective CFTR-dependent CREB activation results in impaired spermatogenesis and azoospermia.CFTR 依赖性 CREB 激活缺陷导致精子发生受损和无精子症。
PLoS One. 2011;6(5):e19120. doi: 10.1371/journal.pone.0019120. Epub 2011 May 9.
2
The management of infertility due to obstructive azoospermia.梗阻性无精子症所致不育症的治疗
Fertil Steril. 2008 Nov;90(5 Suppl):S121-4. doi: 10.1016/j.fertnstert.2008.08.096.
3
Reassessing reconstruction in the management of obstructive azoospermia: reconstruction or sperm acquisition?重新评估梗阻性无精子症治疗中的重建手术：重建还是获取精子？
Urol Clin North Am. 2008 May;35(2):289-301, x. doi: 10.1016/j.ucl.2008.01.005.
4
Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility.囊性纤维化跨膜传导调节因子对精子受精能力和男性生育能力至关重要。
Proc Natl Acad Sci U S A. 2007 Jun 5;104(23):9816-21. doi: 10.1073/pnas.0609253104. Epub 2007 May 22.
5
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.囊性纤维化跨膜传导调节因子（CFTR）基因重排的检测丰富了先天性双侧输精管缺如的突变谱，并对遗传咨询产生影响。
Hum Reprod. 2007 May;22(5):1285-91. doi: 10.1093/humrep/dem024. Epub 2007 Feb 28.
6
[Mutations and polymorphisms in CFTR genes in infertile men with oligospermia or azoospermia].[少精子症或无精子症不育男性CFTR基因的突变与多态性]
Srp Arh Celok Lek. 2002 Jan-Feb;130(1-2):1-6. doi: 10.2298/sarh0202001k.
7
Genetic risk factors in infertile men with severe oligozoospermia and azoospermia.严重少精子症和无精子症不育男性的遗传风险因素。
Hum Reprod. 2002 Jan;17(1):13-6. doi: 10.1093/humrep/17.1.13.
8
Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility.三磷酸腺苷结合盒超家族转运蛋白基因在严重男性不育中的表达
Biol Reprod. 2001 Aug;65(2):394-400. doi: 10.1095/biolreprod65.2.394.
9
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.法国囊性纤维化和先天性输精管缺如中CFTR基因突变谱。
Hum Mutat. 2000;16(2):143-56. doi: 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J.
10
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.先天性输精管缺如患者CFTR基因突变的异质性及临床相关性
Hum Reprod. 2000 Jul;15(7):1476-83. doi: 10.1093/humrep/15.7.1476.

运用扩增阻滞突变系统聚合酶链反应（ARMS PCR）技术检测伊朗非先天性双侧输精管缺如（CAVD）梗阻性无精子症不育男性中常见囊性纤维化跨膜传导调节因子（CFTR）突变的患病率。

The prevalence of common CFTR mutations in Iranian infertile men with non-CAVD obstructive azoospermia by using ARMS PCR techniques.

作者信息

Safinejad Kyumars, Darbouy Mojtaba, Kalantar Sayed Mahdi, Zeinali Sirus, Mirfakhraie Reza, Yadegar Leila, Houshmand Masoud

机构信息

Fars Science and Research branch, Islamic Azad University, Shiraz, Iran.

Research & Clinical Centre for Infertility, Shahid Sadoughi Medical Sciences University Yazd, Yazd, Iran.

出版信息

J Assist Reprod Genet. 2011 Nov;28(11):1087-90. doi: 10.1007/s10815-011-9632-7. Epub 2011 Oct 6.

DOI:10.1007/s10815-011-9632-7
PMID:21976147
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3224173/
Abstract

PURPOSE

To evaluate five common cystic fibrosis trans-membrane conductance regulator (CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile men with noncongenital absence of vas deferens (CAVD) obstructive azoospermia.

METHODS

The common CFTR gene mutations were tested on blood samples from 53 infertile men with non-CAVD obstructive azoospermia and 50 normal men as control individuals. Genomic DNA is extracted from the whole blood and the common CFTR mutations have been detected by the amplification refractory mutation system (ARMS) techniques.

RESULTS

The common CFTR mutations were found positive in 5/53)9.43%(for ΔF508 and 4/53)7.55%(for G542X mutation of all patients tested. Also, no CFTR mutations were detected in the normal men.

CONCLUSION

The common CFTR mutations were detected in 9/53(17%) infertile men with non-CAVD obstructive azoospermia. Pre-treatment CFTR mutation analysis remains critical to distinguish cystic fibrosis (CF) genotypes for men with non CAVD obstructive azoospermia.

摘要

目的

评估伊朗非先天性输精管缺如（CAVD）梗阻性无精子症的不育男性中5种常见的囊性纤维化跨膜传导调节因子（CFTR）突变（ΔF508、G542X、R117H、W1282X和N1303K）。

方法

对53例非CAVD梗阻性无精子症的不育男性和50例正常男性的血液样本进行常见CFTR基因突变检测。从全血中提取基因组DNA，采用扩增阻滞突变系统（ARMS）技术检测常见CFTR突变。

结果

在所有检测患者中，常见CFTR突变中ΔF508在5/53（9.43%）患者中呈阳性，G542X突变在4/53（7.55%）患者中呈阳性。此外，正常男性中未检测到CFTR突变。

结论

在53例非CAVD梗阻性无精子症的不育男性中，9例（17%）检测到常见CFTR突变。对于非CAVD梗阻性无精子症男性，治疗前CFTR突变分析对于区分囊性纤维化（CF）基因型仍然至关重要。