Gene Variation Analysis of 357 Cases with Gilbert Syndrome in Kunming

Jianping HE; Mengxin LV; Maohua QIN; Lihong ZHU; Fengbo DANG; Yongbo SUN; Shengjun LUO; Lan LUO; Jian TANG

doi:10.12259/j.issn.2095-610X.S20231015

Volume 44 Issue 10

Oct. 2023

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Article Navigation > Journal of Kunming Medical University > 2023 > 44(10): 155-160

Jianping HE, Mengxin LV, Maohua QIN, Lihong ZHU, Fengbo DANG, Yongbo SUN, Shengjun LUO, Lan LUO, Jian TANG. Gene Variation Analysis of 357 Cases with Gilbert Syndrome in Kunming[J]. Journal of Kunming Medical University, 2023, 44(10): 155-160. doi: 10.12259/j.issn.2095-610X.S20231015

Citation:

Jianping HE, Mengxin LV, Maohua QIN, Lihong ZHU, Fengbo DANG, Yongbo SUN, Shengjun LUO, Lan LUO, Jian TANG. Gene Variation Analysis of 357 Cases with Gilbert Syndrome in Kunming[J]. Journal of Kunming Medical University, 2023, 44(10): 155-160. doi: 10.12259/j.issn.2095-610X.S20231015

Citation:

Jianping HE, Mengxin LV, Maohua QIN, Lihong ZHU, Fengbo DANG, Yongbo SUN, Shengjun LUO, Lan LUO, Jian TANG. Gene Variation Analysis of 357 Cases with Gilbert Syndrome in Kunming[J]. Journal of Kunming Medical University, 2023, 44(10): 155-160. doi: 10.12259/j.issn.2095-610X.S20231015

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Gene Variation Analysis of 357 Cases with Gilbert Syndrome in Kunming

doi: 10.12259/j.issn.2095-610X.S20231015

1.
Dept. of Medical Genetics and Prenatal Diagnosis，Kunming Maternal and Child Health Hospital，Kunming Yunnan 650031
2.
School of Basic Medicine，Kunming Medical University，Kunming Yunnan 650041，China

Received Date: 2023-05-29
Publish Date: 2023-10-25

Abstract

Abstract

Objective To explore the gene variation profile of Gilbert syndrome in Kunming, and to provide basic data for the mechanisms of Gilbert syndrome. Methods 357 children with Gilbert syndrome in Kunming were analyzed by high-throughput sequencing and bio-information analysis. Results Among 357 children with Gilbert syndrome, 82 cases were found to have homozygous variations in the UGT1A1 gene, with c.211G > A homozygous variation accounting for 93.9% of the cases; c.1091C > T homozygous variation accounting for 3.7% of the cases; and c.1198A > C homozygous variation accounting for 2.4% of the cases. 275 cases were found to have heterozygous variations in the UGT1A1 gene, with c.211G > A heterozygous variation accounting for 69.1% of the cases; c.1091C > T heterozygous variation accounting for 17.8% of the cases;c.1456T > G heterozygous variation accounting for 5.5% of the cases; c.1198A > C heterozygous variation accounting for 2.5% of the cases; c.1352C > T accounting for 1.1% of the cases; c.596C > G heterozygous variation accounting for 1.1% of the cases; c.1423C > T heterozygous variation accounting for 0.7% of the cases; and c.1100G > A, c.1389G > C, c.610A > G, c.163C > T, c.715C > T, c.1021C > T heterozygous variations each accounting for 0.4% of the cases. Conclusion The top three gene variants associated with Gilbert's syndrome in the Kunming region were c.211G > A, c.1091C > T, c.1456T > G, which were different from those found in the border areas of Yunnan. This provides important reference data for the diagnosis, prevention, and treatment of unconjugated hyperbilirubinemia in the Kunming region, and also lays the foundation for further exploration of the pathogenesis of unconjugated hyperbilirubinemia.
- Gilbert syndrome,
- Genetic variation,
- High-throughput sequencing

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References(21)

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