| Objective:Understanding the gene carrying rate,types of mutations and frequency of thalassemia in Guizhou,and constructing a more detailed map of gene clusters in Guizhou province,this measure can be used to reduce globin production anemia(also known as Mediterranean type)in Guizhou Province.The birth rate of children with anemia has provided a theoretical basis.Methods:The study randomly selected 1-2 representative counties(cities)from eight regions of Guizhou Province for epidemiological investigation of thalassemia in Guizhou Province.Collect the relevant information of the subject(originality,ethnicity,age,gender,etc.).Blood sampling was performed on subjects who participated in the study(6-7 ml of peripheral venous blood and EDTA anticoagulation).The collected samples were analyzed by blood routine and hemoglobin electrophoresis.Thalassemia gene detection was performed by Next-generation sequencing technology and compared with traditional indipine screening methods.After all the data data was compiled,data processing was performed using SPSS 18.0 software for statistical analysis.After the collected data is processed,the measurement data is represented by the maximum value,the minimum value,and the mean±standard deviation(),etc.;the count data is based on the frequency distribution,composition ratio,relative ratio,and rate,etc.Describe and use χ2test to compare rates.Non-parametric test or one-way analysis of variance was used to compare the mean of the samples.The difference was statistically significant at P<0.05.Results:1.Among the 7866 subjects from 8 regions of Guizhou Province,14 ethnic groups,including Han,Yi,Miao,Buyi,Shui,Tujia,Yao,Yi,Zhuang,etc.868 cases(11.03%)of thalassemia;583 cases(7.41%)of α-thalassemia,254 cases(3.23%)of β-thalassemia,and31 cases(0.39%)of α complex β thalassemia.2.In each region,the gene carrying rate in Zunyi area was 7.56%(162/2144),the gene carrying rate in Liupanshui area was 7.46%(51/684),and the gene carrying rate in southeastern Yunnan was 13.60%(449/3301).The gene carrying rate was 18.56%(90/485)in the southern region,8.56%(65/759)in the Tongren region,10.33%(28/271)in the southwest Guizhou,and 8.33 in the Guiyang region.%(9/108),the gene carrying rate in Bijie Prefecture was 12.28%(14/114).3.Among the ethnic groups,the genetic carrying rate of the Buyi is 18.47%,the gene carrying rate of the Miao is 15.73%,the genetic carrying rate of the Shui is 11.21%,the carrying rate of the Yao is 16.88%,and the gene carrying rate of the Yi is For 14.86%,the genetic carrying rate of the Zhuang is 17.82%,the carrying rate of the Tujias is 11.74%,the carrying rate of the Yi is 13.56%,and the carrying rate of the Han is 8.31%.4.Among the 583 cases of α-thalassemia,425 were deletions,accounting for 72.90%;78 were non-deletions,accounting for 13.38%;6 were deletions and non-deletions,accounting for 1.03%;and-SEA/αα were absent.,-α3.7/αα,-α4.2/αα three genotypes were common,the composition ratio was 38.09%,21.78%,10.88%,respectively,while non-deleted genotypes were common with Hb CS,Hb Westmead;rare Genotypes included c.95+9C>T/N,c.96-9T>C/N,and 74 cases of α-triplexes,accounting for 12.69% of allα-thalassemia.There were 11 types of mutations detected in β-thalassemia,and the most common 4 types were: CD41-42,CD17,IVS-2-654,and-28,and these 4 mutations accounted for 91.36% of all β mutations.αα/-α3.7 complex CD41-42 were the most common in α complex β-thalassemia,accounting for 29.03% of α-complex β-thalassemia.5.Compared with Next-generation sequencing technology,the traditional screening method can detect 704 cases of thalassemia,the detection rate is 8.95%(704/7866),the missed diagnosis rate is 2.08%(164/7866);in 583 cases In the case of α-thalassemia,437 cases were detected by the traditional method,and missed diagnosis was 25.04%(146/583). Of the 285 cases of β-thalassemia and α complex β-thalassaemia,267 cases were detected by traditional methods,and 6.32 were missed.%(18/285).Conclusion:1.The carrier rate of thalassemia gene in Guizhou Province is 11.03%,of which the gene carrier rate of α-thalassemia is 7.41%,the gene carrier rate of β-thalassaemia is 3.23%,and the carrier rate of α complex β-thalassemia is 0.39%..2.Deletion type is more common in α-thalassemia,the most common genotype is--SEA/αα;the most common genotype β-thalassaemia is CD41-42(-TCTT);α complexβ-thalassaemia The combination of CD41-42(-CTTT)with αα/-α3.7 is more common.3.The gene carrying rate of the thalassemia of the Han nationality is lower than that of ethnic minorities,while the gene carrying rate of the Zhuang,Miao,Yao and Buyi groups is relatively high.4.The carrying rate of the thalassemia gene is relatively high in southern Fujian and southeastern Guizhou,while the genetic carrying rate of thalassaemia is low in Zunyi,Tongren and Liupanshui.5.The carrying rate of α-triplex in the population in Guizhou is 0.94%,mainly including two types of αααanti4.2 and αααanti3.7.6.The rate of missed diagnosis of the traditional method of screening for the poor is2.08%.Direct detection of thalassaemia by Next-generation sequencing technology can reduce the rate of missed diagnosis of thalassemia.7.The hematological parameters of the thalassemia gene carriers in Guizhou are not completely consistent with the hypochromicity of small cells. |
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