UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population
المؤلفون المشاركون
Sribudiani, Yunia
Wisnumurti, Dewi A.
Porsch, Robert M.
Maskoen, Ani M.
Abdulhamied, Lola I.
Rahayuningsih, Sri E.
Asni, Eni K.
Sleutels, Frank
Kockx, Christel E. M.
van Ijcken, Wilfred F. J.
Sukadi, Abdurachman
Achmad, Tri H.
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-11، 11ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-01-23
دولة النشر
مصر
عدد الصفحات
11
التخصصات الرئيسية
الملخص EN
Neonatal hyperbilirubinemia (NH) is a common finding in newborn babies in Indonesia.
Common and rare variants of UGT1A1 have been known to contribute to NH etiology.
This study aims to identify UGT1A1 genetic variation and haplotype associated with NH in Indonesian population.
DNA was isolated from 116 cases and 115 controls and a targeted-deep sequencing approach was performed on the promoter, UTRs, and exonic regions of UGT1A1.
Determining association of common variants and haplotype analysis were performed using PLINK and Haploview.
Ten and 4 rare variants were identified in cases and controls, respectively.
The UGT1A1 rare variants frequency in cases (5.17%) was higher than that in controls (1.7%).
Four of those rare variants in cases (p.Ala61Thr, p.His300Arg, p.Lys407Asn, and p.Tyr514Asn) and three in controls (p.Tyr79X, p.Ala346Val, and p.Thr412Ser) are novel variants.
The frequencies of p.Gly71Arg, p.Pro229Gln, and TA7 common variants were not significantly different between cases and controls.
A haplotype, consisting of 3 major alleles of 3′ UTRs common variants (rs8330C>G, rs10929303C>T, and rs1042640C>G), was associated with NH incidence (p=0.025) in this population.
Using targeted-deep sequencing and haplotype analysis, we identified novel UGT1A1 rare variants and disease-associated haplotype in NH in Indonesian population.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Wisnumurti, Dewi A.& Sribudiani, Yunia& Porsch, Robert M.& Maskoen, Ani M.& Abdulhamied, Lola I.& Rahayuningsih, Sri E.…[et al.]. 2018. UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population. BioMed Research International،Vol. 2018, no. 2018, pp.1-11.
https://search.emarefa.net/detail/BIM-1129737
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Wisnumurti, Dewi A.…[et al.]. UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population. BioMed Research International No. 2018 (2018), pp.1-11.
https://search.emarefa.net/detail/BIM-1129737
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Wisnumurti, Dewi A.& Sribudiani, Yunia& Porsch, Robert M.& Maskoen, Ani M.& Abdulhamied, Lola I.& Rahayuningsih, Sri E.…[et al.]. UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-11.
https://search.emarefa.net/detail/BIM-1129737
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1129737
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