A Gene Analysis of Thalassemia in Bouyei Population in Qianxinan Prefecture,Guizhou Province
Objective To investigate the genotyping characteristics of thalassemia in Buyi and Miao Autonomous Prefecture in Southwest Guizhou of Guizhou Province,and to provide general and practical references for the development of thalassemia prevention and control strategies in this area.Methods A total of 3323 thalassemia primary screening positive patients(MCV＜80fL and/or MCH＜27pg)in Xingyi People's Hospital from 2019 to 2022 were selected as the study subjects.The thalassemia gene was detected by PCR-flow-through hybridization,and the results were analyzed statistically.Results A total of 968 cases of thalassemia gene carriers were identified among these 3 323 subjects,and 445 thalassemia gene carriers in Buyi nationality were detected.There were 257 cases(57.75％)with α-thalassemia,158 cases(35.51％)with β-thalassemia,and 30 cases(6.74％)withαβ complex thalassemia.Among the thalassemia gene carriers in Buyi nationality,α-thalassemia accounted for 57.75％,of which--SEA/αα(31.52％)was the most common type,followed by-α37/αα(21.4％).β-thalassemia accounted for 35.51％of the total cases,and the most common type ofβ-thalassemia wereβCD17/βN(49.37％)and βCD41-42/βN(39.87％).In addition,30 cases of αβ complex thalassemia carrier(6.74％)were detected,of which the highest proportion was α37/β CD17(30.00％).Conclusion The detection rate of α-thalassemia genotype is higher than that of β-thalassemia in Buyi population of Qianxinan Prefecture of Guizhou Province.The missing αα thalassemia mutant gene are the most common type in--SEA/αα and-α3.7/αα,and the most common genetic mutations of theβ thalassemia gene are βCD41-42/βN and βCD17/βN,while the most common genetic mutations of the aβ complex thalassemia gene is βCD41-42/βN.
NETL
NSTL
万方数据
维普
