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The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens
المؤلفون المشاركون
Pan, Bochen
Liu, Xiaoliang
Wu, Bin
Du, Qiang
Li, Zheng
Pan, Yongfeng
المصدر
العدد
المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2014-01-08
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Purpose.
To evaluate the significance of molecular detection of cystic fibrosis transmembrane conductance regulator (CFTR) M470V, intron 8 poly-T, and intron 8 TG-repeats in congenital bilateral absence of the vas deferens (CBAVD).
Methods.
Eighty-nine male patients with CBAVD and 103 healthy males were included in this study.
Polymerase chain reaction was performed to amplify the polymorphic regions using primers from conserved regions.
M470V was genotyped using real-time PCR by cycling probe.
The exon 9 DNA sequence was determined using an automated sequencer.
TG-repeats and poly-T were identified by direct sequencing analysis.
Results.
The 5T allele distribution was 0.32, 0.66 for 7T, and 0.02 for 9T in CBAVD males, respectively.
In contrast, the 5T allele distribution was 0.03, 0.96 for 7T, and 0.01 for 9T in healthy control.
Study of the polymorphisms of the upstream of exon 9 revealed a higher frequency of 5T allele in the CBAVD males.
All cases with TG13T5 haplotype and TG12T5 homozygous led to CBAVD.
The CFTR TG12T5-V470 variant haplotype was associated with CBAVD.
Conclusion.
The 5T allele of intron 8 of CFTR has clinically significant association with CBAVD.
TG13T5 and TG12T5 homozygously led to CBAVD, and TG12T5-V470 may also lead to CBAVD.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Du, Qiang& Li, Zheng& Pan, Yongfeng& Liu, Xiaoliang& Pan, Bochen& Wu, Bin. 2014. The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens. BioMed Research International،Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-490706
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Du, Qiang…[et al.]. The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens. BioMed Research International No. 2014 (2014), pp.1-7.
https://search.emarefa.net/detail/BIM-490706
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Du, Qiang& Li, Zheng& Pan, Yongfeng& Liu, Xiaoliang& Pan, Bochen& Wu, Bin. The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-490706
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-490706
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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