粤北地区不明原因婴儿黄痘与基因变异的相关性研究

Objective To explore genetic profile of unexplained infant jaundice with unknown etiology in northern Guangdong Province and assess the importance of jaundice-related gene screening. Methods Infants jaundice with unknown etiology attending the neonatology and pediatrics departments of Yuebei Peoples Hospital from January 2022 to July 2024 were selected as the subjects of this study. The exon regions of 161 jaundice-related genes were detected by targeted capture and high-throughput sequencing technology, and the results were statistically analyzed. Results A total of 56 infants were included in the study, among which 28 cases (50%) showed positive results, involving 6 diseases: Gilbert syndrome in 7 cases (12.5%), sodium taurocholate co-transporting polypeptide (NTCP) deficiency in 8 cases (14.2%), glucose-6-phosphate dehydrogenase (G6PD) deficiency in 4 cases (7.1%), combined Gilbert syndrome and G6PD deficiency in 4 cases (7.1%), citrin deficiency combined with G6PD deficiency in 1 case (1.8%), Dubin-Johnson syndrome combined with Rotor syndrome in 1 case (1.8%), NTCP deficiency combined with G6PD deficiency in 2 cases (3.6%), and NTCP deficiency combined with Gilbert syndrome in 1 case (1.8%). Among the 56 infants, 55 cases (98.2%) carried one or more gene mutation sites, with only 1 case (1.8%) showing no mutation sites. Five high - frequency mutation sites were the UGT1A1 gene c.211G>A and c.-53-52TA[8] sites, G6PD gene c.1376G>T, c.871G>A, and c.1388G>A sites, and the SLC10A1 gene c.800C>T site. Conclusion Genetic factors are significant contributors to the development of infant jaundice with unknown etiology in northern Guangdong. Common pathogenic genes include the UGT1A1 gene, G6PD gene, and SLC10A1 gene, with high - frequency mutation sites present in the population. Conducting genetic screening for infants jaundice with unknown etiology has important clinical significance.