CAJ | 학술논문

目的探讨中国贵州省17例葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症患者的临床特征及分子遗传特征.方法分析患者的临床特征,收集患者及其部分母亲外周血,提取基因组DNA,针对C6PD基因所有编码外显子及外显子和内含子交界处进行PCR扩增测序.结果患者的临床表型多样,如表现为蚕豆病、药物性溶血、新生儿高胆红素血症、感染性溶血及慢性非球形红细胞性溶血性贫血等.3例患者有伴发病,分别为α地中海贫血、急性髓系白血病M2型、新生儿肛门膜状狭窄.基因分析显示G1376T、G1388A及A95G是最常见的3种G6PD基因突变类型.G1376T、G1388A及A95G占总突变的发生率为82.4％.2例患者仅有c.1311C＞T,IVS11 nt93T＞C变异.世界范围内首次发现1例贵州省榕江县患者有一新的c.G1388A,IVS10-10 T＞G基因复合变异.1例贵州省贵阳市患者母亲为c.1376 G ＞T,1311C ＞T,IVS11 nt93 T＞C基因复合变异携带者.结论 G6PD缺乏症具有一个广泛的临床异质性.世界范围内首次发现G6PD缺乏症患者中存在一新的G6PD基因复合变异单倍型c.G1388A,IVS10-10 T＞G,丰富了G6PD基因多态谱.贵州省患者可能存在G6PD基因复合变异单倍型c.1376 G＞T,1311C＞T,IVS11 nt 93 T＞C.
목적 탐토중국귀주성17례포도당-6-린산탈경매(G6PD)결핍증환자적림상특정급분자유전특정.방법 분석환자적림상특정,수집환자급기부분모친외주혈,제취기인조DNA,침대C6PD기인소유편마외현자급외현자화내함자교계처진행PCR확증측서.결과 환자적림상표형다양,여표현위잠두병、약물성용혈、신생인고담홍소혈증、감염성용혈급만성비구형홍세포성용혈성빈혈등.3례환자유반발병,분별위α지중해빈혈、급성수계백혈병M2형、신생인항문막상협착.기인분석현시G1376T、G1388A급A95G시최상견적3충G6PD기인돌변류형.G1376T、G1388A급A95G점총돌변적발생솔위82.4％.2례환자부유c.1311C＞T,IVS11 nt93T＞C변이.세계범위내수차발현1례귀주성용강현환자유일신적c.G1388A,IVS10-10 T＞G기인복합변이.1례귀주성귀양시환자모친위c.1376 G ＞T,1311C ＞T,IVS11 nt93 T＞C기인복합변이휴대자.결론 G6PD결핍증구유일개엄범적림상이질성.세계범위내수차발현G6PD결핍증환자중존재일신적G6PD기인복합변이단배형c.G1388A,IVS10-10 T＞G,봉부료G6PD기인다태보.귀주성환자가능존재G6PD기인복합변이단배형c.1376 G＞T,1311C＞T,IVS11 nt 93 T＞C.
Objective To explore the clinical and genetic characteristics of 17 cases with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Guizhou,China.Methods The clinical features of 17 patients with G6PD deficiency were analyzed,DNA samples were obtained from the patients and some mothers,and the exons and flanking intronic sequences of the G6PD gene were analyzed by the polymerase chain reaction and sequencing.Results The cases had diverse phenotypes,these patients had acute haemolytic anaemia triggered by eating broad beans,infections,ingestion of specific drugs or the neonatal period and chronic nonspherocytic haemolytic anaemia.Three cases of the patients had concomitant diseases for α Mediterranean anemia,acute myeloid leukemia M2 type and neonatal anal membrane stenosis,respectively.G1376T,G1388A and A95G were the commonest G6PD variants in patients in Guizhou,China.G1376T,G1388A and A95G mutations were observed in 82.4％ cases.Two patients had only compound variants(c.1311 C ＞ T,IVS11 nt 93 T ＞ C).One case in the Rongjiang County,Guizhou Province had novel compound variants (c.G1388A,IVS10-10 T ＞ G) in the world.A patient's mother in the Guiyang City,Guizhou Province,China had compound variants (c.1376 G ＞ T,1311 C ＞ T,IVS11 nt 93 T ＞ C) as a carrier.Conclusions G6PD deficiency has a wide range of clinical heterogeneity.A novel G6PD compound variant haplotype c.G1388A,IVS10-10 T ＞ G was first found in the world,and the SNP spectrum of G6PD was enlarged.There may be a G6PD compound variant haplotype c.1376 G ＞ T,1311 C ＞ T,IVS11 nt 93 T ＞ C in Guizhou.