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العنوان
Role of Uridine Diphosphate Glucuronosyl transferase 1A1 (UGT1A1) Polymorphism in the development of neonatal jaundice in Egyptian Newborns /
الناشر
Mohamed Abdelhamid Youssef Ramadan ,
المؤلف
Mohamed Abdelhamid Youssef Ramadan
تاريخ النشر
2015
عدد الصفحات
151 P.
الفهرس
Only 14 pages are availabe for public view

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from 178

Abstract

Neonatal hyperbilirubinemia is a very common problem. The causes of neonatal hyperbilirubinemia are multifactorial, sometimes hereditary factors act independently, but in other circumstances, single mutation which ordinarily do not produce disease by themselves, may result in severe hyperbilirubinemia as result of interaction with other mutated genes. In our study we defined three gene mutations that can cause neonatal jaundice in our country. Objectives: In our study we assessed three gene mutations which may be a risk factor for the occurrence of unexplained unconjugated hyperbilirubinemia in our country, two of the three gene mutations belong to the uridine diphosphate glucuronosyl {u2013} transferase 1A1, the first is UGT1A1 (-3279) T > G , the second is UGT1A1 (211)G > A while the third belongs to glucose six phosphate dehydrogenase enzyme 563 C > T Mediterranean mutation which is the most common mutation of this enzyme in our country