关键词: 关键词：葡萄糖-6-磷酸脱氢酶, 基因突变, 外显子测序

Abstract: Objective In order to recognize the underlying mutation site as well as its inheritance model, all the thirteen exons of G6PD gene were sequenced for a family trio with G6PD deficiency. Methods We collected the family trio with G6PD deficiency in Huizhou of Guangdong Province, a region of high prevalence of G6PD deficiency. The family trio includes the proband, his affected mother and healthy father.Their blood samples were collected and genomic DNA were extracted. Sequence analysis was performed in thirteen exons by PCR and DNA sequencing. Results The results indicated that the proband and his mother shared an identical mutation (c.95A>G, p.His32Arg) in exon 2 of G6PD gene. This mutation causes histidine to be replaced with arginine (CAC>CGC). However, no single mutation was found in his father. Three bioinformatics tools predicted that this mutation is detrimental to the function(s) of its associated protein. Conclusions The mutation, c.95A>G, following an X-linked dominant inheritance model, is a causal site for G6PD deficiency.

Key words: Keywords: Glucose-6-phosphate dehydrogenase, gene mutation, exon sequencing