中国福州地区地中海贫血基因突变类型分析
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摘要
目的:了解福州地区α、β-地中海贫血基因突变类型及分布。方法:对2013年7月-2018年3月在我院进行体检、产检、孕前检查及疑似地中海贫血人群,采用Gap-PCR及RDB-PCR的方法检测α-或β-地中海贫血基因。结果:2 074例疑似人群中确诊1 042例,检出率为50.24%。确诊α-地中海贫血618例(29.80%);β-地中海贫血409例(19.72%);αβ-复合型地中海贫血15例(0.72%)。α-地中海贫血基因型以--~(SEA)/αα(76.54%)为主,其次是-α~(3.7)/αα(10.03%)和-α~(4.2)/αα(2.91%);并发现新的IVS-II-55(T->G)和IVS-II-119(-G,+CTCGGCCC)α突变;β-地中海贫血基因型以IVS-2-654(C→T)(40.83%)为主,其次为CD41-42(-TCTT)(35.94%)和CD17(A→T)(9.78%)。结论:福州地区地中海贫血基因类型复杂多样,α-地中海贫血以--~(SEA)/αα基因型最为常见,β-地中海贫血则以IVS-2-654(C→T)最为常见,并发现了2种人类异常血红蛋白地贫库上未见报道的新α突变位点。
Objective: To investigate the gene mutation types and spectrum of α, β-thalassemia in Fuzhou area of China. Methods: Thalassemia gene screening was performed in the women receiving physical, prenatal, and prepregnancy examination, and the patients with suspected thalassemia in our hospital from July 2013 to March 2018.Genotypes of thalassem were detected by Gap-PCR and RDB-PCR. Results: 1042 were positive among 2074 suspected cases with a positive rate of 50.24%; 618 cases were confirmed to be α-thalassemia and with a positive rate of 29.8%;409 cases were confirmed to be β-thalassemia with a positive rate of 19.72%. 15 cases were confirmed to be α-βcomplex thalassemia with a positive rate of 0.72%. the--SEA/αα(76.54%) was the most common genotype amongα-thalassemia,-α3.7/αα(10.03%) and-α4.2/αα(2.91%) in hot pursuit. In addition, IVS-II-55(T->G) and IVS-II-119(-G, +CTCGGCCC) were newly found alpha mutations; the IVS-2-654(C → T)(40.83%) was the most common genotype among β-thalassemia, CD41-42(-TCTT)(35.94%) and CD17(A → T)(9.78%) in hot pursuit. Conclusion: The genotype of thalassemia in Fuzhou area is highly heterogenic,--SEA/αα is the most common genotype among α-thalassemia, IVS-2-654(C → T) is the most common genotype among β-thalassemia, Meanwhile, two α-mutation sites are found in this study which were not reported in the Database of Human Hemoglobin Variants and Thalassemias.
Objective: To investigate the gene mutation types and spectrum of α, β-thalassemia in Fuzhou area of China. Methods: Thalassemia gene screening was performed in the women receiving physical, prenatal, and prepregnancy examination, and the patients with suspected thalassemia in our hospital from July 2013 to March 2018.Genotypes of thalassem were detected by Gap-PCR and RDB-PCR. Results: 1042 were positive among 2074 suspected cases with a positive rate of 50.24%; 618 cases were confirmed to be α-thalassemia and with a positive rate of 29.8%;409 cases were confirmed to be β-thalassemia with a positive rate of 19.72%. 15 cases were confirmed to be α-βcomplex thalassemia with a positive rate of 0.72%. the--SEA/αα(76.54%) was the most common genotype amongα-thalassemia,-α3.7/αα(10.03%) and-α4.2/αα(2.91%) in hot pursuit. In addition, IVS-II-55(T->G) and IVS-II-119(-G, +CTCGGCCC) were newly found alpha mutations; the IVS-2-654(C → T)(40.83%) was the most common genotype among β-thalassemia, CD41-42(-TCTT)(35.94%) and CD17(A → T)(9.78%) in hot pursuit. Conclusion: The genotype of thalassemia in Fuzhou area is highly heterogenic,--SEA/αα is the most common genotype among α-thalassemia, IVS-2-654(C → T) is the most common genotype among β-thalassemia, Meanwhile, two α-mutation sites are found in this study which were not reported in the Database of Human Hemoglobin Variants and Thalassemias.
引文
1 Weatherall DJ.The evolving spectrum of the epidemiology of thalassemia.Hematol Oncol Clin North Am,2018;32(2):165-175.
2杨阳,张杰.中国南方地区地中海贫血研究进展.中国实验血液学杂志,2017;25(1):276-280.
3 Liao C,Li Q,Wei J,et al.Prenatal control of Hb Bart's disease in southern China.Hemoglobin,2007;31(4):471-475.
4徐两蒲,黄海龙,王燕,等.福建省籍各地市人群地中海贫血的分子流行病学研究.中华医学遗传学杂志,2013;30(4):403-406.
5戴庆福,李晓璐,王玉霞,等.中国福建省龙岩地区地中海贫血基因突变类型的分析.中国实验血液学杂志,2017;25(2):498-502.
6陈雅斌,张丹丹,蒋燕成,等.泉州地区α和β地中海贫血基因突变类型分析.中国优生与遗传杂志,2017;25(10):32-34.
7俞柳敏,林华,张秋燕,等.莆田市191例珠蛋白生成障碍性贫血基因型研究.国际检验医学杂志,2016;37(15):2154-2155.
8聂益军,吕小林,林慧,等.江西地区455例地中海贫血的筛查结果分析实验与检验医学,2017;35(4):458-460.
9周冰燚,赵文忠,李铭臻,等.广东地区16336例地中海贫血初筛阳性样本基因型分析.中国医药导报,2016;13(32):73-77.
10刘富华,贾艺聪,陈洁晶,等.广西地区13589例地中海贫血筛查结果及基因突变类型分析.临床血液学杂志,2015;28(11):966-969.
11朱晓西.贵州地区2000例地中海贫血基因诊断结果分析与研究.中国优生与遗传杂志,2016;24(12):39-40+52.
12莫亚虹,吴秀继.海南地区13440对育龄夫妇地中海贫血基因检测结果分析.中国热带医学,2017;17(12):1206-1209.
13姚莉琴,邹团标,刘锦桃,等.云南省22287对婚检人群地中海贫血基因型分布状况及干预模式探讨.中国优生与遗传杂志,2017;25(11):31-34.
14刘绮婷,何秋贤.αβ复合型地中海贫血的血液学和基因型相关分析.中国医药指南,2015;13(27):85-86.
15吕荣钰,文飞球,陈小文,等.常规基因检测阴性的地中海贫血疑似病例再行进一步基因检测仍有7%的阳性发现.中国循证儿科杂志,2014;9(4):274-277.
2杨阳,张杰.中国南方地区地中海贫血研究进展.中国实验血液学杂志,2017;25(1):276-280.
3 Liao C,Li Q,Wei J,et al.Prenatal control of Hb Bart's disease in southern China.Hemoglobin,2007;31(4):471-475.
4徐两蒲,黄海龙,王燕,等.福建省籍各地市人群地中海贫血的分子流行病学研究.中华医学遗传学杂志,2013;30(4):403-406.
5戴庆福,李晓璐,王玉霞,等.中国福建省龙岩地区地中海贫血基因突变类型的分析.中国实验血液学杂志,2017;25(2):498-502.
6陈雅斌,张丹丹,蒋燕成,等.泉州地区α和β地中海贫血基因突变类型分析.中国优生与遗传杂志,2017;25(10):32-34.
7俞柳敏,林华,张秋燕,等.莆田市191例珠蛋白生成障碍性贫血基因型研究.国际检验医学杂志,2016;37(15):2154-2155.
8聂益军,吕小林,林慧,等.江西地区455例地中海贫血的筛查结果分析实验与检验医学,2017;35(4):458-460.
9周冰燚,赵文忠,李铭臻,等.广东地区16336例地中海贫血初筛阳性样本基因型分析.中国医药导报,2016;13(32):73-77.
10刘富华,贾艺聪,陈洁晶,等.广西地区13589例地中海贫血筛查结果及基因突变类型分析.临床血液学杂志,2015;28(11):966-969.
11朱晓西.贵州地区2000例地中海贫血基因诊断结果分析与研究.中国优生与遗传杂志,2016;24(12):39-40+52.
12莫亚虹,吴秀继.海南地区13440对育龄夫妇地中海贫血基因检测结果分析.中国热带医学,2017;17(12):1206-1209.
13姚莉琴,邹团标,刘锦桃,等.云南省22287对婚检人群地中海贫血基因型分布状况及干预模式探讨.中国优生与遗传杂志,2017;25(11):31-34.
14刘绮婷,何秋贤.αβ复合型地中海贫血的血液学和基因型相关分析.中国医药指南,2015;13(27):85-86.
15吕荣钰,文飞球,陈小文,等.常规基因检测阴性的地中海贫血疑似病例再行进一步基因检测仍有7%的阳性发现.中国循证儿科杂志,2014;9(4):274-277.