Association between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children
المؤلفون المشاركون
Ganesh, Suma
Mehra, Shipra
Kapur, Suman
المصدر
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2012-09-27
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص EN
Purpose.
Studies involving genotyping of STR markers at 2q34 have repeatedly found the region to host the disease haplotype for pediatric cataract.
Present study investigated the association of D2S2944 marker, in sperm associated antigen 16 (SPAG16) gene and rs2289917 polymorphism, in γ-crystallin B gene, with childhood cataract.
Methods.
97 pediatric cataract cases and 110 children with no ocular defects were examined for tetranucleotide repeat marker/SNP using PCR-SSLP/RFLP techniques.
Polymorphisms were assessed for association using contingency tables and linkage disequilibrium among alleles of the markers was estimated.
Energy-optimization program predicted the secondary structure models of repeats of D2S2944.
Results.
Seven alleles of D2S2944, with 9–15 “GATA” repeats, were observed.
Frequency of the longer allele of D2S2944, ≥(GATA)13 repeats, was 0.73 in cases and 0.56 in controls (P=0.0123).
Male children bearing ≥(GATA)13 repeats showed >3-fold higher risk for cataract (CI95% = 1.43–7.00, P=0.0043, Pc=0.0086) as compared to female children (OR=1.19, CI95% = 0.49–2.92, P=0.70).
Cases with haplotype—≥(GATA)13 of D2S2944 and “C” allele rs2289917—have a higher risk for pediatric cataract (OR=2.952, CI95% = 1.595~5.463, P=0.000453).
>(GATA)13 repeats formed energetically more favorable stem-loop structure.
Conclusion.
Intragenic microsatellite repeat expansion in SPAG16 gene increases predisposition to pediatric cataract by probably interfering posttranscriptional events and affecting the expression of adjacent lens transparency gene/s in a gender bias manner.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Mehra, Shipra& Kapur, Suman& Ganesh, Suma. 2012. Association between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children. Journal of Biomarkers،Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-499904
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Mehra, Shipra…[et al.]. Association between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children. Journal of Biomarkers No. 2013 (2013), pp.1-8.
https://search.emarefa.net/detail/BIM-499904
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Mehra, Shipra& Kapur, Suman& Ganesh, Suma. Association between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children. Journal of Biomarkers. 2012. Vol. 2013, no. 2013, pp.1-8.
https://search.emarefa.net/detail/BIM-499904
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-499904
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر