Genotype analysis of α-thalassemia and β-thalassemia in child patients of Shenzhen region
10.13602/j.cnki.jcls.2017.08.12
- VernacularTitle:深圳地区小儿α和β地中海贫血基因类型分析
- Author:
Zhenmin REN
;
Defeng CAI
;
Weiwei XIAO
;
Gang XU
;
Yongqiu LIU
;
Dongli MA
- Keywords:
α-thalassemia;
β-thalassemia;
genotype
- From:
Chinese Journal of Clinical Laboratory Science
2017;35(8):605-608,636
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the genotype and mutation frequency of thalassemia in child patients of Shenzhen region so as to provide evidences for the gene diagnosis and genetic counseling of thalassemia.Methods A total of 1 206 child patients suspected with thalassemia were retrospectively analyzed.The gene deletion of α-thalassemia was detected by Gap-PCR.The point mutations of α-thalassemia and β-thalassemia were determined by reverse dot blot(RDB)-PCR.The specimens suspected with HKαα and rare gene mutations were determined with nested PCR and gene sequencing,respectively.Results The detection rate of thalassemia was 76.9％ (927/ 1 206).Among them,α-thalassemia accounted for 40.5％ (489/1 206),and--SEA/αα was the most common gene mutation(75.1％);β-thalassemia accounted for 33.7％ (406/1 206),and the main IVS-2-654 (C→T) and CDM1-42 (-TCTT) heterozygous mutations accounted for 35％ and 32.5％,respectively.In addition,there were 32(2.7％) β-thalassemia patients with α-thalassemia mutation,1 patient with HKαα/ααQS,1 α-thalassemia patient with CD61 (AAG→TAG)/--SEA and 1 β-thalassemia patient with CD5 (CCT→C).Conclusion The are complicated gene mutation types and rare gene mutations of thalassemia in child patients of Shenzhen region.
