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Article Abstract
Objectives: To study the characteristics of gene mutations in Dong neonates in Sanjiang County of Liuzhou and its association with the pathogenesis of hyperbilirubinemia in Dong neonates.
Methods: A prospective analysis was performed on 84 neonates who were diagnosed with unexplained hyperbilirubinemia in the Department of Neonatology, Sanjiang County People's Hospital, from January 2021 to January 2022. Sixty healthy neonates born during the same period were enrolled as the control group. Peripheral blood genomic DNA was extracted for both groups, and exon 1 was amplified by PCR and sequenced.
Results: In the case group, 33 neonates were found to have G71R missense mutation, with a mutation rate of 39%. The case group had a significantly higher frequency of A allele than the healthy control group (21% vs 10%, <0.05). The risk of hyperbilirubinemia in Dong neonates carrying G71R missense mutation was 2.588 times as high as that in healthy neonates carrying wild-type gene (<0.05). Hardy-Weinberg equilibrium testing showed that the G71R locus was in genetic equilibrium in both groups (>0.05).
Conclusions: G71R mutation is a high-frequency gene mutation type in Dong neonates in Sanjiang County, and G71R missense mutation is associated with hyperbilirubinemia in Dong neonates.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336619 | PMC |
| http://dx.doi.org/10.7499/j.issn.1008-8830.2202127 | DOI Listing |
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