Analysis of β -globin gene mutation in β -thalassemia in Han population of Wenzhou region

Abstract

：Objective To analysisthe β-globin gene mutation in β-thalassemia in thepopulation of Wenzhou natives,and identify the major mutation in Wenzhou and furtherprovide valuable information for genetic counseling,prenatal diagnosis and preventionprograms in this region.Methods Patients with β-thalassemia were diagnosedand the genomics DNA were extracted from whole blood cells and amplified withPCR,sequenced and compared to the standard sequence.Some mutations were further identifiedby subcloned.Results 44 of 66 patients were diagnosed β-Thalassemia,9 mutations werefound in the 44 sporadic patients with the sequence analysis,2 of which were knownpolymorphisms(exonl 59,IVS-2-665),3 belonged to the common mutations inChinese(IVS-2-654,CD_(41/42)-TTCT and TATA box nt-28),2 were scarceabnormalities(CD_(47),CD_(66))and 2 novel variants(-24T→C,CD_(26A)→G,samesense mutation,unreported).Conclusion The mutations of β-globin gene in Han Chinese in Wenzhou are complex (9mutations found in all),the rare and novel mutations are identified,which provide thevaluable information for genetic counseling in Wenzhou.