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通过扩增葡萄糖－６－磷酸脱氢酶（Ｇ６ＰＤ）基因第１０，１１，１２，１３外显子６３９ｂｐＤＮＡ片段结合寡核苷酸探针斑点杂交技术，在４０例广西籍Ｃ６ＰＤ缺陷者中检测中国人常见Ｇ６ＰＤ突变ｃＤＮＡ１３７６（Ｇ→Ｔ）和ｃＤＮＡ１３８８（Ｇ→Ａ）。结果检出ｃＤＮＡ１３７６（Ｇ→Ｔ）男性半合子１２例，ｃＤＮＡ１３８８（Ｇ→Ａ）男性半合子１０例，ｃＤＮＡ１３８８（Ｇ→Ａ）女性纯合子１例，ｃＤＮＡ１３７６（Ｇ→Ｔ）和ｃＤＮＡ１３８８（Ｇ→Ａ）女性双重杂合子１例。ｃＤＮＡ１３７６（Ｇ→Ｔ）突变的频率为３１．０％，ｃＤＮＡ１３８８（Ｇ→Ａ）突变的频率为３１．０％。ｃＤＮＡ１３７６（Ｇ→Ｔ）和ｃＤＮＡ１３８８（Ｇ→Ａ）两种突变均可导致新生儿高胆红素血症、急性溶血、遗传性非球形细胞性溶血性贫血、无症状基因突变携带者等临床表现。
China’s population of C6PD-deficient Chinese was detected by amplification of the 6,119 bp DNA fragments of the 10, 11, 12, and 13 exons of the glucose-6-phosphate dehydrogenase (G6PD) gene in combination with the oligonucleotide probe dot blot hybridization Common G6PD mutation cDNA1376 (G → T) and cDNA1388 (G → A). Results There were 12 males in cDNA1376 (G → T), 10 males in cDNA1388 (G → A), 1 males homozygous for cDNA1388 (G → A), 1313 (G → T) A) Female double heterozygote in 1 case. The frequency of cDNA1376 (G → T) mutation was 31.0% and the frequency of cDNA1388 (G → A) mutation was 31.0%. Both mutations of cDNA1376 (G → T) and cDNA1388 (G → A) can lead to clinical manifestations such as neonatal hyperbilirubinemia, acute hemolysis, hereditary non-spherical hemolytic anemia and carriers of asymptomatic mutations .