Genetic lesions in the UGT1A1 genes among Gilbert's syndrome patients from India

被引：4

作者：

Chiddarwar, Ashish S. ^{[1
]}

D'Silva, Selma Z. ^{[1
]}

Colah, Roshan B. ^{[1
]}

Ghosh, Kanjaksha ^{[1
]}

Mukherjee, Malay B. ^{[2
]}

机构：

[1] Natl Inst Immunohaematol ICMR, 13th Floor,NMS Bldg,KEM Hosp Campus, Bombay 400012, Maharashtra, India

[2] Natl Inst Immunohaematol ICMR, Dept Haematogenet, 13th Floor,NMS Bldg,KEM Hosp Campus, Bombay 400012, Maharashtra, India

来源：

MOLECULAR BIOLOGY REPORTS | 2018年 / 45卷 / 06期

关键词：

Hyperbilirubinemia; Missense variation; Mutation; Bilirubin; Novel; UNCONJUGATED HYPERBILIRUBINEMIA; PROTEIN MUTATIONS; PROMOTER; IDENTIFICATION; ASSOCIATION; IMPACT;

D O I：

10.1007/s11033-018-4305-6

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The present study was undertaken to investigate genetic variations present in the coding regions of the UGT1A1 gene among the Gilbert's syndrome patients. Analysis of genetic variations was performed by direct DNA sequencing among the patients that do not have any polymorphic variations in the promoter regions of the UGT1A1 gene. We identified seven different sequence variations among Gilbert's Syndrome patients, of which four were novel. Out of seven variants, six missense and one silent single nucleotide substitutions were present in the UGT1A1 gene. In addition, molecular modeling of UGT1A1 (H55R, P152S and N212H) variants suggested a reduced activity of the enzyme. This study demonstrates that different variations present in the UGT1A1 gene and specifically, the H55R variation had a significant effect on bilirubin levels and could be genetic risk factors for hyperbilirubinemia.

引用

页码：2733 / 2739

页数：7

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