Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia
نویسندگان
چکیده
منابع مشابه
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
The aim of this study was to identify new pathogenic variations of the UGT1A1 gene in 11 patients diagnosed with neonatal unconjugated hyperbilirubinemia. We describe two cases in which clinically unapparent heterozygotic mutations in the UGT1A1 gene may become evident in combination with certain environmental conditions or additional genetic defects.
متن کاملAssociation between hepatic iron deposition, and serum bilirulin levels, mutations of UGT1A1 and HFE gene in patients with hereditary unconjugated hyperbilirubinemia
Histological findings of liver in patients with hereditary unconjugated hyperbilirubinemia (HUH) are generally mild. But Iron deposition in liver shown in some patients may indicate iron overload which can be contributing factor to additional complications. Mechanism of increased iron deposition is unclear. We studied the features of pathological changes, bilirubin levels, mutations of UGT1A1 a...
متن کاملAnalysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia.
This study was carried out to analyze uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1) gene mutations in neonates with unconjugated hyperbilirubinemia, from two different ethnic groups. Polymerase chain reaction and gene sequencing were used to analyze the differences in genotypes and allele frequencies of different gene mutations among the ethnic groups; this was followed by chec...
متن کاملProlonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.
OBJECTIVE Breast milk jaundice is a common problem in nursing infants. It has been ascribed to various breast milk substances, but the component or combination of components that is responsible remains unknown. During our study of defects of the bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) in patients with hereditary unconjugated hyperbilirubinemia (Crigler-Najjar syndrom...
متن کاملthe study of aaag repeat polymorphism in promoter of errg gene and its association with the risk of breast cancer in isfahan region
چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2007
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.10585