Investigation On Remarital Marriage And Maternity Groups Of The Thalassemia In Dali Heqing County, Yunnan Province

Objective:In order to investigate the thalassemia carrying status and distribution who are the premarital marriage and maternity groups in Heqing County of Yunnan Province,and to understand the common types of thalassaemia and gene distribution in the region,and provide scientific basis for the prevention and early intervention of thalassaemia in the region.Methods: 1.Using a stratified random sampling method to determine the number of the premarital marriage and maternity groups in this area;2.Collecting the information on premarital marriage and maternity groups screening thalassemia from May 2017 to June 2017 in Heqing and Child Health Hospital.Hemoglobin cellulose acetate membrane electrophoresis technique was used to screen the sample cases(1303 premarital and maternal groups);3.After screening positive number of cases and then carry out Gap-PCR technology and PCR amplification combined with reverse dot blot(RDB)technology for ? or?gene diagnosis;4,DNA sequencing for further genetic diagnosis of thalassemia;5,drawing the family genetic map.Results: In stratified random sample of 1303 subjects,1,The prevalence of?-thalassemia was 2.38%.Among them,There were 29 cases were heterozygous mutation of CD26(GAG ? AAG),and 2 cases of heterozygous mutation of CD56(GGC ? GAC);2,? thalassemia was not detected;3,In Heqing area,there was no significant difference in the prevalence of ?-thalassemia among the areas and ethnic groups.However,the screening indicators of different gene mutation types and different regions were statistically significant.Conclusion: 1,Heqing County is one of a high-prone areas of the thalassemia,it is neceressary to develop widely premarital,pre-pregnancy and prenatal screening,toachieve the purpose that improvement of the population qulity and preventing birth defects.2,The screening for thalassemia is different in different gene mutation types and in different regions.Therefore,suitable screening cutoff value should be determined according to different conditions during screening;3,The distribution of gene mutations in the thalassemia in Yunnan has its own geography and group characteristics,that is,Primarily beta thalassemia type,and CD26 is the most common genotypes,and this can be used as a reference for making genetic diagnosis and prevention strategies.