一个中国Gilbert综合征家系的临床和遗传学特征分析

Objective To perform clinical and genetic pedigree analyses of a Chinese male patient with Gilbert's syndrome and his relatives. Methods Blood sample were collected from the proband and his relatives by liver function test, etiological examination and genetic analysis to exclude other related diseases. The phenobarbital-responsive enhancer module (PBREM) , TATA box and common mutation sites in exons of UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the products screened by direct DNA sequencing. Results c. -3279T ＞ G in PBREM, TA insertion in TATA box and Gly71Arg were observed in this family. A linkage disequilibrium is also noted between c. -3279T ＞ G and TA insertion. In four affected members, three are heterozygotes and one is homozygote. The correlation between genotype and phenotype with a high serum level of unconjugated bilirubin was confirmed. Conclusion c. -3279T ＞ G in PBREM, TA insertion in TATA box and Gly71 Arg are essential for the pathogenesis of Gilbert's syndrome in this Chinese family. Gilbert's syndrome in this family is inherited in an autosomal recessive manner.

Clinical and genetic analyses of UGT1A1 gene from a Chinese family with Gilbert's syndrome