Genetic mutation screening of glucose-6-phosphate dehydrogenase deficiency in Dongguan district.
10.3760/cma.j.issn.1003-9406.2018.06.015
- Author:
Ying ZHAO
1
,
2
;
Jingfan WU
;
Jianqun LI
;
Xun YU
;
Youqing FU
;
Yanhui LIU
;
Aijuan XU
Author Information
1. Dongguan Institute of Reproduction and Genetics, Dongguan Maternal and Child Health Care Hospital, Guangdong 523000, China. liuliang71215@163.com
2. ajxu@hybribio.cn.
- Publication Type:Journal Article
- MeSH:
China;
DNA Mutational Analysis;
Female;
Genetic Testing;
Genotype;
Glucosephosphate Dehydrogenase;
genetics;
Glucosephosphate Dehydrogenase Deficiency;
diagnosis;
Humans;
Male;
Mutation
- From:
Chinese Journal of Medical Genetics
2018;35(6):840-843
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine the incidence and genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Dongguan region of Guangdong Province and assess the efficacy and feasibility of flow-through hybridization.
METHODS:Peripheral blood samples were randomly selected and detected by modified G6PD/6PGD ratio method. Flow-through hybridization was used to detect 14 G6PD mutations among all samples.
RESULTS:In total 1005 samples were collected, the detection rate for modified G6PD/6PGD ratio method and flow-through hybridization were 2.79% and 20.90%, respectively. The consistency of the two methods was poor(Kappa=0.187). When c.1311C>T mutation is excluded, the consistency of the two methods was good for males (Kappa=0.952) but still poor for females (Kappa=0.194). The most common mutations were c.1376G>T, c.1388G>A and c.95A>G. No G6PD deficiency was found among those only carrying the c.1311C>T mutation.
CONCLUSION:Flow-through hybridization can simultaneously detect 14 loci, covering over 90% of common mutations in Chinese population, and can be easily expanded. The routine method may miss many females carrying homozygous, compound heterozygous and heterozygous mutations, but the detection rate for male hemizygous mutation was much higher.
