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Gene Analysis of Glucose-6-phosphate Dehydrogenase(G6PD) in Neonates of Guangdong

Author: XiaoXue
Tutor: ZhangYouXiang；YuLi
School: Guangzhou Medical College
Course: Pediatrics
Keywords: Glucose -6-phosphate dehydrogenase enzyme (G6PD) deficiency G6PD Gene mutation Guangdong
CLC: R722.1
Type: Master's thesis
Year: 2010
Downloads: 78
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Abstract

Glucose-6-phosphate dehydrogenase deficiency (Glucose-6-phosphate dehydrogenase deficiency) referred to as G6PD deficiency, hemolytic disease, is caused by the G6PD gene mutations, the activity decreased incomplete X-linked dominant inheritance. G6PD deficiency neonatal hyperbilirubinemia high incidence of severe jaundice can lead to neonatal bilirubin encephalopathy, resulting in permanent nervous system damage, even causing death. Therefore, early diagnosis and treatment is very important. G6PD deficiency is one of the world's most common single gene disorders, about 400 million people worldwide affected, the highest incidence of Guangdong and Guangxi. So far, China's population of at least 25 kinds of the G6PD mutation of type which 1376G gt; T, 1388G gt; A and 95A gt; G three mutations accounted for more than 60-72%. The study of gene mutations predict children with clinical phenotype and treatment efficacy evaluation of prenatal diagnosis and genetic diagnosis, has a very important role. Objective: gene mutation analysis of 50 cases in Guangdong G6PD deficiency patients understand two common mutation type G6PD Canton (1376G gt; T), G6PD Kaiping (1388G gt; A) and two types of rare mutations (1311C gt ; frequency of T, IVS93 T gt; C) to investigate the interaction between the mutation site and gene mutations in the relationship between the type and neonatal hyperbilirubinemia clinical characteristics, understanding the Guangdong population G6PD gene mutations characteristics of depth study the pathogenesis of the disease, and to provide a scientific basis for the clinical diagnosis and treatment. Subjects and methods: admitted to hospital in 2007 to 50 cases in Guangdong G6PD deficiency in newborns for the experimental group, the control group, 20 cases of jaundice newborn is extracted peripheral blood genomic DNA. Apply direct sequencing of the PCR-DNA to to detect G6PD Canton (1376G gt; T) and 1311C - gt; T, IVS93 T gt; the C mutation types, applications mutation specific amplification system (ARMS) assay G6PD Kaiping (1388G gt; A) mutation type, for four kinds of the frequency of occurrence of point mutation. Analysis of four kinds of G6PD mutation differences in the type of clinical indicators with the control group. Results: The experimental group samples of 50 cases, the detection of G6PD mutations: 1388G gt; A, 1376G gt; T, 1311C - gt; T Intron11 93 points T gt; C Detected 1388G gt; A type of mutation in 30 cases (60.0%), 1376G gt; T mutations in 13 cases (26.0%), 1311C - gt; T 2 cases, IVS 93T gt; C 2. Gt; G6PD 1388G A/1376G gt; T compound mutant 1311C - gt; T / IVS 93T gt; the C composite mutations in two cases (1388G gt; A/1311C gt; T / IVS 93T gt; C composite mutation cases 1376G gt; T/1311C gt; T / IVS 93T gt; C composite mutation 1 case). 1388G gt; A mutation in type 1 cases detected in 20 cases in the control group. Male / female sex ratio of the three kinds of G6PD gene mutations (1388G gt; A, 1376G gt; T, 1388G gt; A/1376G gt; T), serum total bilirubin peak MetHb% G6PD/6PGD with the control group statistics learn on the difference was statistically significant, the male / female sex ratio between the three kinds of G6PD gene mutations, serum total bilirubin peak MetHb%, G6PD/6PGD statistically the difference was not significant significance. Day-old aspects statistically no significant differences between the three kinds of G6PD gene mutations with the control group, and three kinds of G6PD gene mutations in jaundice appears. G6PD1376G gt; T group, 1388G gt; A/1376G gt; T group and the control group, 1388G gt; A group 1388G gt; A/1376G gt; jaundice T group between day-old statistical difference significant . G6PD1388G gt; A group with the control group, 1376G gt; T and 1388G gt; A group 1376G gt; T and 1388G gt; A/1376G gt; the jaundice day-old statistical difference was not significant in the T group between the two groups. The 1388G gt; A group and the control group, 1376G gt; T and 1388G gt; A group hemoglobin values ??statistically different significant 1376G gt; T, 1388G gt; A/1376G gt; T group and the control group, 1376G gt; T group, 1388G gt; the A group 1388G gt; A/1376G gt; hemoglobin values ??statistically between T compound mutant group showed no significant meaning. Statistically significant difference between the three kinds of G6PD gene mutations in blue light irradiation and the use of albumin. Conclusion: 1,1388 G gt; A and 1376G gt; T is the the Guangdong population most common the two G6PD gene mutations type. The type of mutation frequency of 60.0% and 26.0%, respectively. 2, G6PD gene composite mutation which 1388G gt; A/1311C gt; T / IVS 93T gt; the C with 1376G gt; T/1311C gt; T / IVS 93T gt; C at home and abroad have not been reported. 3 female heterozygotes have different performance may appear enzyme activity normal. G6PD deficiency is one of the risk factors for neonatal hyperbilirubinemia, but not caused by the risk factors for neonatal jaundice premature. Compound mutant with a single point mutation in the degree of jaundice was no significant difference.

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