新生儿黄疸G6PD基因突变及实验室相关指标分析  

Analysis of G6PD gene mutation and laboratory related indicators in neonatal jaundice

作　　者：王杨[1] 吉永 匡野 付晓野 杨晓青 李祎[1] WANG Yang;JI Yong;KANG Ye;FU Xiaoye;YANG Xiaoqing;LI Yi(Department of Laboratory Medicine,Yan􀆳an Hospital Affiliated to Kunming Medical University,Kunming,Yunnan,China,650051)

机构地区：[1]昆明医科大学附属延安医院检验科,云南昆明650051

出　　处：《分子诊断与治疗杂志》2022年第10期1718-1721,1726,共5页Journal of Molecular Diagnostics and Therapy

基　　金：昆明市卫健委科研课题项目(2019-11-01-017)。

摘　　要：目的 探讨新生儿黄疸病例中G6PD基因突变类型的分布情况,以及生理性与病理性黄疸之间的实验室相关指标差异。方法 收集昆明市延安医院新生儿科2017年8月至2019年3月收治的134例新生儿黄疸患儿(病理性黄疸91例,生理性黄疸43例),对其进行实验室相关指标的数据采集。并对134例患儿中的49例(病理性黄疸37例,生理性黄疸12例)进行G6PD基因突变检测。结果 49例患儿中共检出基因突变3例,其中c.1376G>T纯合突变2例(66.67%),c.95A>G纯合突变1例(33.33%)。G6PD基因突变率为6.12%。生理性黄疸组与病理性黄疸组之间总胆红素、直接胆红素、间接胆红素、血红蛋白、红细胞压积、网织红细胞绝对值比较,差异有统计学意义(t=-14.15、-3.55、-14.12、-3.93、-3.62、2.79,P<0.05);两组超敏CRP、红细胞数比较,差异无统计学意义(t=-0.47、-2.73,P>0.05)。结论c.1376G>T纯合基因突变型是其中最常见的G6PD基因突变型。生理性与病理性黄疸之间血红蛋白等实验室相关指标比较有显著相关性。Objective To investigate the distribution of G6PD gene mutation types in neonatal jaundice cases and the differences in laboratory indicators between physiologic and pathological jaundice.Method Data of laboratory indicators were collected from 134 children diagnosed with neonatal jaundice,and G6PD gene mutation was detected in 49 of them. Results Among the 49 cases,3 cases were detected with gene mutation,including 2 cases of c.1376G > T homozygous mutation(66.67%)and 1 case of c.95A > G homozygous mutation(33.33%).The mutation rate of G6PD gene was 6.12%. The absolute values of total bilirubin,direct bilirubin,indirect bilirubin,hemoglobin,hematocrit and reticulocyte between the physiological jaundice group and the pathological jaundice group were significantly different(t=-14.15,-3.55,-14.12,-3.93,-3.62,2.79,P<0.05). There was no significant difference in the number of hypersensitive CRP and red blood cells between the two groups(t=-0.47,-2.73,P>0.05). Conclusions C.1376G > T homozygous gene mutation is the most common G6PD gene mutation. There was a significant correlation between physiologic and pathological jaundice in laboratory parameters such as hemoglobin.

关 键 词：新生儿 黄疸 胆红素 G6PD 基因突变 

分 类 号：R722.17[医药卫生—儿科]