CAJ | 학술논문

目的：研究东莞东南区域不同人群的葡萄糖-6-磷酸脱氢酶（glucose-6-phosphate dehydrogenase，G6PD）基因缺乏率和酶活性测定法在女性杂合子中的检出率。方法收集东莞市塘厦医院2007年1月～2013年4月的39475例标本，通过遗传平衡定律计算出不同人群的基因频率和女性杂合子的检出率。结果不同人群的男性 G6PD 缺乏率分别是成人组（A）5.03％，新生儿组（B）5.10％，总组别（C）5.06％，各组之间差异无统计学意义（χ2＝0.0404，P ＝0.980）。A，B 和 C每组的女性杂合子的检出率分别是27.13％，14.49％和23.87％，各组之间差异有统计学意义（χ2＝32.26，P ＝0.000）。结论G6PD 缺乏症在该地区发病率为5.06％，不同人群的 G6PD 缺乏率无差异，以及采用酶活性检测法在女性杂合子检出率中效果不理想，尤其是在 B 组中，这有利于在遗传咨询、产前诊断和新生儿出生缺陷等方面提供更全面的信息。
목적：연구동완동남구역불동인군적포도당-6-린산탈경매（glucose-6-phosphate dehydrogenase，G6PD）기인결핍솔화매활성측정법재녀성잡합자중적검출솔。방법수집동완시당하의원2007년1월～2013년4월적39475례표본，통과유전평형정률계산출불동인군적기인빈솔화녀성잡합자적검출솔。결과불동인군적남성 G6PD 결핍솔분별시성인조（A）5.03％，신생인조（B）5.10％，총조별（C）5.06％，각조지간차이무통계학의의（χ2＝0.0404，P ＝0.980）。A，B 화 C매조적녀성잡합자적검출솔분별시27.13％，14.49％화23.87％，각조지간차이유통계학의의（χ2＝32.26，P ＝0.000）。결론G6PD 결핍증재해지구발병솔위5.06％，불동인군적 G6PD 결핍솔무차이，이급채용매활성검측법재녀성잡합자검출솔중효과불이상，우기시재 B 조중，저유리우재유전자순、산전진단화신생인출생결함등방면제공경전면적신식。
Objective To study different groups of deficiency rate of glucose-6-phosphate dehydrogenase (G6PD)and enzyme activity assay in the detection rate of female heterozygote in the Southeast Dongguan.Methods From January 2007 to April 2013,of 39 475 cases of test results were collected in Tangxia Hospital of Dongguan city,the gene frequency and the detec-tion rate of female heterozygote could be calculated through genetic equilibrium law in different group.Results The male de-ficiency rates of G6PD in different group were Adult group(A)5.03%,Neonatal Group(B)5.10% and Total group(C) 5.06%,respectively,and there were no significant difference between each groups (χ2 =0.0404,P =0.980).The detection rate of female heterozygote of A,B and C in each groups were 27.13%,14.49% and 23.87%,respectively,and the differ-ence were statistically significant between different groups (χ2 =32.26,P =0.000).Conclusion Prevalence of G6PD defi-ciency in this area was 5.06% and there were differences between the deficiency rate of G6PD in different populations.The enzyme activity assay in female heterozygote detection rate is not satisfactory,especially in group B,which is conducive to ge-netic counseling,prenatal diagnosis and birth defects,such as providing more comprehensive information.