Gly71arg
WebThe TATAA-box mutation and Gly71Arg are the major causes for Gilbert's syndrome in our population. Concurrence of mutations of Gly71Arg and TATAA-box usually exerts a synergistic effect on hyperbilirubinemia. Pro229Gln, which is regularly linked to the TATAA-box mutation, may not have a significant … WebNov 27, 2024 · Objective: The associations between Gly71Arg polymorphism in the coding region of uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) gene and the risk …
Gly71arg
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WebDec 4, 2024 · The frequency of p.Gly71Arg was 6.89% and 4.78% in cases and controls, respectively. The frequency of p.Gly71Arg in this population was higher than that in the Javanese population from Central Java, Indonesia (1.5%), and in well-term infants from Malays in Singapore (4%) [8, 21]. The frequency of p.Pro229Gln was 4.74% and 2.60% … WebThe TATAA-box mutation and Gly71Arg are the major causes for Gilbert's syndrome in our population. Concurrence of mutations of Gly71Arg and TATAA-box usually exerts a synergistic effect on hyperbilirubinemia. Pro229Gln, which is regularly linked to the TATAA-box mutation, may not have a significant effect on serum bilirubin levels.
WebAssociation of UGT1A1 Gly71Arg with urine urobilinogen Nagoya J Med Sci. 2011 Feb;73(1-2):33-40. Authors Ryuji Kataoka 1 , Akiko Kimata, Kanami Yamamoto, Naoko Hirosawa, Jun Ueyama, Takaaki Kondo, Rieko Okada, Sayo Kawai, Asahi Hishida, Mariko Naito, Emi Morita, Kenji Wakai, Nobuyuki Hamajima. Affiliation 1 Medical ... Web17 rows · Mar 26, 2024 · This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 71 of the UGT1A1 protein …
WebAmong 1602 term newborns with hyperbilirubinemia in eastern Guangdong of China, 32.20% (580/1602) was severe hyperbilirubinemia. Among the causes of severe hyperbilirubinemia, neonatal hemolysis accounted for 15.17%, breast milk jaundice accounted for 12.09%, infection accounted for 10.17%, glucose-6-phosphate … WebAllele frequency of Gly71Arg was 0.32 in newborns with hyperbilirubinemia, which was significantly higher than 0.13 in healthy Japanese controls. This mutant allele is also prevalent among Korean and Chinese healthy controls with a frequency of 0.23 in both populations. However, this mutation was not detected in 50 healthy German controls.
Web李 咏，马 科，邓仲端，程恒辉，沈桂芬华中科技大学同济医学院附属同济医院 1.内科； 2.感染科； 3.病理科，湖北 武汉 4300303
Web在中国、日本、韩国Gilbert综合征患者中，ugt1a1的第211位核苷酸Gly71Arg更为多见。 此外，还有其他错义突变，如ugt1a1的Pro229Gln突变，第4外显子的Arg367Gly，第5外显子的Tyr486Asp突变等。 new children\u0027s book publishersWebAbstract. Genetic factors are implicated in pathogenesis of neonatal hyperbilirubinemia. In this nested case-control study, we determined 1) frequency of thymine-adenine (TA)n promoter polymorphism and Gly71Arg mutation in uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1) gene in neonates > or =35-wk gestation … new children\u0027s book releases 2023WebOct 20, 2024 · This study attempts to discuss the correlation between UGT1A1*28 as uridine diphosphate glucuronosyltransferase gene promoter and coding region Gly71Arg gene polymorphism with neonatal hyperbilirubinemia of neonates in Wuhan. A total of 168 neonates were divided into the hyperbilirubinemia group (case group, n=108) and … new children toys videosWebOct 24, 2024 · Although some studies suggest that compound variants [c.-3279T>G, p.(Gly71Arg), and p.(Pro364Leu)] make UGT1A1 protein failure, some family members (I:2, II:1, II:9, and III:4) who had these ... internet bateauWebIn Western countries, the allelic frequency of the TA insertion can be as high as 0.4 [14, 15], and in Asian countries, such as Japan, the most common variation is the UGT1A1 6 variant in exon 1, resulting in a p.Gly71Arg substitution ; however, few studies have reported UGT1A1 variants in hyperbilirubinemia patients from China [17, 18]. new children\u0027s book releasesWebJun 1, 2006 · The studies related to the correlation between UGT1A1 Gly71Arg and TATA promoter polymorphisms and neonatal hyperbilirubinemia were searched systematically in various databases. According to the presence or absence of significant heterogeneity, a random-effect or fixed-effect model was chosen to estimate the overall odds rations … new children\u0027s book releases 2022WebJul 1, 2011 · Conclusion: This meta-analysis confirms that UGT1A1 Gly71Arg polymorphism significantly increases the risk of neonatal hyperbilirubinemia in Asian population, but results from the Caucasian ... new children\u0027s books 2018