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


CONCLUSIONS
c. -3279T > G in PBREM, TA insertion in TATA box and Gly71Arg 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.
Peng
Xiang-xin
XX
Department of Infectious Diseases, China-Japan Friendship Hospital, Beijing 100029, China.
Jiang
Jun
J
D000328:Adult; D044466:Asian People / Q000235:genetics; D005091:Exons; D005260:Female; D005838:Genotype; D005878:Gilbert Disease / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D000099148:UGT1A1 Enzyme
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme