摘要：
目的 探讨华南地区地中海贫血(简称地贫)的罕见基因突变类型.方法 对来自华南地区13个不同地理区域的327例因血液学表型与常见基因突变检测结果 不符、疑似为罕见地贫的样本,应用跨越断裂点聚合酶链反应(GAP-PCR)和DNA测序进行鉴定.结果 共检出地贫罕见基因突变108例,其中包含10种罕见的α珠蛋白基因突变,分别为泰国型缺失(--THAI)、香港型缺失(HKαα)、αααanti3.7、αααanti4.2、-α2.8、-α27.6、CD74 GAC>CAC(Hb Q-Thailand)、CD30(-GAG)、CD31 AGG>AAG和CD118(+TCA),12种罕见β珠蛋白基因突变,分别为CD37 TGG>TAG、CD39 CAG>TAG/CD39 CAG>T AG、βII-2(-T)、-90(C>T)、-31(A>C)、-88(C>T)、CD7(-A)、CD138(+T)、CD89-93(--AGTGAGCTGCACTG)、CD54-58(-TATGGGCAACCCT)、中国型Gγ+(Aγδβ)0和越南型HPFH(Vietnamese HPFH,HPFH-6)缺失.其中β珠蛋白基因-88(C>T)(HBB:c.-138C>T)和CD39 CAG>TAG(HBB:c.118C>T)突变在中国人群中尚未见报道,CD7(-A)(HBB:c.23delA)和CD138(+T)(HBB:c.416_417insT)为新发现的基因突变类型.结论 本研究的结果充实了华南地区地贫基因突变的类型,可为地贫的诊断提供必要的分子信息.%Objective To detect rare types of thalassemia mutations among southern Chinese population .Methods Peripheral blood samples from 327 patients from various regions of southern China were collected . The patients were suspected as rare-type thalassemia for their inconsistency between hematological phenotypes and results of routine mutation screening .The samples were further analyzed with GAP-PCR and DNA sequencing .Results One hundred and eight cases were diagnosed as rare types of thalassemia .Among whom 10 rare α-globin gene mutations including --THAI , HKαα,αααanti3 .7 ,αααanti4 .2 ,-α2 .8 ,-α27 .6 ,CD74 GAC>CAC (Hb Q-Thailand) ,CD30 (-GAG) ,CD31 AGG> AAG and CD118 (+ TCA) ,and 12 rare β-globin gene mutations including CD37 TGG> TAG ,CD39 CAG> TAG/CD39 CAG> TAG ,βII-2 (-T) ,-90(C> T) ,-31(A> C) ,-88(C> T) ,CD7(-A) ,CD138(+ T) , CD89-93 (--AGTGAGCTGCACTG ) , CD54-58 (-TATGGGCAACCCT ) , Chinese Gγ + (Aγδβ) 0 and Vietnamese HPFH (HPFH-6) were identified .-88(C>T) (HBB :c .-138C> T)and CD39 CAG> TAG (HBB:c .118C> T) were discovered for the first time in Chinese population .CD7(-A) (HBB :c .23delA) and CD138(+ T ) (HBB :c .416_417insT ) were new types of β-globin gene mutations .Conclusion The present study have enriched the mutation spectrum of thalassemia in southern China ,which has provided necessary information for its diagnosis .
