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目的分析海南省澄迈县人群葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)的发病率及基因突变类型。方法用Zinkham法对1 299例(男650例,女649例)标本进行G6PD缺乏筛查;用多色探针荧光PCR熔解曲线法对初筛的阳性标本进行中国人常见的16种G6PD基因突变类型检测,对未检出突变的标本进行外显子测序。结果澄迈县人群的G6PD缺乏症总发生率为5.54%(72/1 299),其中男性发生率为6.62%(43/650),女性发生率为4.47%(29/649)。72例阳性标本中有61例检测出有突变,共检出6种基因点突变,含24例1 376 G>T(33.33%),19例1 388 G>A(26.39%),4例95 A>G(5.56%),6例1 024 C>T(8.33%),4例392 G>T(5.56%),3例871 G>A(4.17%),1例1 376 G>T复合1 388 G>A突变(1.39%)。未检出突变的11例(15.28%)标本经外显子测序未发现新突变。结论澄迈县G6PD缺乏症发生率高,以1 376 G>T和1 388 G>A突变基因型为主。
Objective To analyze the incidence and gene mutation of G6PD in the population of Chengmai County in Hainan Province. Methods A total of 1 299 cases (650 males and 649 females) were screened by Zinkham method for G6PD deficiency. Sixteen Chinese G6PD gene mutations were detected by fluorescent PCR melting curve analysis. Type detection, the mutation was not detected in samples exon sequencing. Results The overall incidence of G6PD deficiency in Chengmai County was 5.54% (72/1 299). Among them, the incidence of G6PD was 6.62% (43/650) in males and 4.47% (29/649) in females. Among the 72 positive samples, 61 mutations were detected, and 6 kinds of gene point mutations were detected, including 24 cases of 1 376 G> T (33.33%), 19 cases of 1 388 G> A (26.39%) and 4 cases of 95 A> G (5.56%), 6 cases 1 024 C> T (8.33%), 4 cases 392 G> T (5.56%), 3 cases 871 G> A The 1 388 G> A mutation (1.39%). No mutations were found in 11 cases (15.28%) with exon sequencing. Conclusions The incidence of G6PD deficiency in Chengmai County is high, with 1 376 G> T and 1 388 G> A mutation genotypes predominating.