Analysis of the Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution.

OBJECTIVE

The spectrum of () variants in hereditary unconjugated hyperbilirubinemia varies markedly between different ethnic populations. This study evaluated the genotypes in hyperbilirubinemia patients from southeastern China.

METHODS

We enrolled 60 patients from southeastern China (44 men and 16 women; age range: 3-76 years) with unconjugated hyperbilirubinemia and performed genetic analysis of the gene by direct sequencing.

RESULTS

For patients with Gilbert syndrome, 85% (47/55) harbored pathogenic variants of ⁎. Both ⁎ and ⁎ were detected in the promoter region of . Additionally, 83% (20/24) of patients with Gilbert syndrome heterozygous for ⁎ had an association with heterozygous variation of ⁎ or ⁎, while 91% (21/23) of Gilbert syndrome patients homozygous for ⁎ had biallelic variations of ⁎ and ⁎. We detected 213 allelic variants, including six novel variations, with the most frequent allele being the ⁎, followed by ⁎ and ⁎. All of the patients showed multiple sites of variants in ; however, variation number was not associated with bilirubin levels (>0.05).

CONCLUSIONS

The spectrum of variants in southeastern Chinese patients was distinct from other ethnic populations. Our findings broaden the knowledge concerning traits associated with variants and help profile genotype-phenotype correlations in hyperbilirubinemia patients.