CAJ | 학술논문

目的了解广西地区HbH病的检出情况及基因分型特征.方法采用免疫磁珠法提取广西地区50 377名疑诊地中海贫血(地贫)患者基因组DNA.采用跨越缺口PCR检测3种常见缺失型α地贫基因(--SEA、-α3.7、-α4.2)突变情况,采用PCR-反向斑点杂交法检测常见α及β地贫基因点突变情况.对于常规地贫检测基因型与临床表型不合的标本,采用多重连接探针扩增及α或β珠蛋白基因测序技术检测基因突变情况.结果共检出1 571例HbH病患者,基因型以--SEA/-α3.7最为常见,占39.40％.其次为--SEA/αCSα、--SEA/-α4.2和--SEA/αWSα,分别占20.69％、19.54％和15.85％.33例Hb H患者基因型为αCS纯合子点突变,5例为泰国型缺失合并α缺失或点突变(--THAI/αCSα、--THAI/αWSα、--THAI/-α4.2、--THAI/-α3.7).95例患者合并β地贫基因突变.检出1例基因型为--SEA/-α21.9的HbH病患者,国内外尚未见报道.结论广西地区Hb H病处于高发状态,其基因突变类型多样,可发生新的突变,也可合并β地贫突变.
목적 료해엄서지구HbH병적검출정황급기인분형특정.방법 채용면역자주법제취엄서지구50 377명의진지중해빈혈(지빈)환자기인조DNA.채용과월결구PCR검측3충상견결실형α지빈기인(--SEA、-α3.7、-α4.2)돌변정황,채용PCR-반향반점잡교법검측상견α급β지빈기인점돌변정황.대우상규지빈검측기인형여림상표형불합적표본,채용다중련접탐침확증급α혹β주단백기인측서기술검측기인돌변정황.결과 공검출1 571례HbH병환자,기인형이--SEA/-α3.7최위상견,점39.40％.기차위--SEA/αCSα、--SEA/-α4.2화--SEA/αWSα,분별점20.69％、19.54％화15.85％.33례Hb H환자기인형위αCS순합자점돌변,5례위태국형결실합병α결실혹점돌변(--THAI/αCSα、--THAI/αWSα、--THAI/-α4.2、--THAI/-α3.7).95례환자합병β지빈기인돌변.검출1례기인형위--SEA/-α21.9적HbH병환자,국내외상미견보도.결론 엄서지구Hb H병처우고발상태,기기인돌변류형다양,가발생신적돌변,야가합병β지빈돌변.
Objective To analyze the status and genotypes of Hb H disease in GuangXi area.Method Human genomic DNA of 50 377 suspected thalassemia patients was extracted from blood,amniotic fluid and chorionic villi by beads.The deletion of α-thalassemia was detected by Gap-PCR,and the gene mutation of α or β-thalassemia was detected by PCR-RDB.Performing multiplex ligationdependent probe amplification detection and gene sequencing in α or β-globin for the specimens in question.Results There were 1 571 Hb H disease patients in total from 2011 to 2013,and the detection rates were 2.82％,3.54％ and 3.00％ respectively.The vast majority of patients had the Southeast Asian deletion (--SEA) on one allele.The-α3.7 (rightward) deletion was the most common on the other allele,followed by Hb Constant Spring (Hb CS),the-α4.2 (leftward) deletion,Hb Westmead (Hb WS) and Hb Quong Sze (Hb QS) mutations.There were 33 Hb H disease patients which genotypes was αCSα/αCSα.Five patients had THAI deletion (--THAI) with deletion or point mutation of α-thalassemia.95 patients had concomitant β-thalassemia (β-thal) heterozygosity.Tere was a novel genotype of--SEA/-α21.9 causing Hb H disease.Conclusion GuangXi area had a high accidence of Hb H disease,the results reflected the genetic diversity and genetic heterogeneity of Hb H disease,the latter may also occur new mutations or combined β-thalassemia,some effective measures should be taken to strengthen screening efforts to prevent underdiagnosis of Hb H disease.