ABSTRACT
OBJECTIVE@#To determine the composition and distribution of beta-thalassemia-associated genotypes in Liuzhou area of Guangxi, China.@*METHODS@#From January to December 2017, 13 847 individuals who came for premarital examination, maternity examination or health check were recruited with informed consent. The subjects were analyzed by reverse dot blotting (RDB) for 17 common beta-thalassemia-associated variants among the Chinese population. Individuals with inconsistent results by blood test, electrophoresis, and RDB were subjected to Sanger sequencing to detect rare variants of the beta globin gene.@*RESULTS@#In total 2098 individuals were found to harbor beta-thalassemia-associated variants, which included 2075 heterozygotes (98.90%), 12 compound heterozygotes (0.57%) and 11 homozygotes (0.52%). CD41-42 (48.43%) and CD17 (31.45%) were the most common variants. Three hundred and thirty eight-individuals were found to also carry heterozygous variants of the alpha globin gene, with the most common types being --SEA/aa, -a3.7/aa, aCSa/aa, -a4.2/aa. Through Sanger sequencing, rare genotypes such as beta-32/betaN, betaCD41-42/betaIVS-II-5 and betaCD30/betaN were detected.@*CONCLUSION@#Liuzhou area has a high incidence of beta-thalassemia, but with a complex variant spectrum and clinical phenotypes different from other regions. Genetic counseling and prenatal diagnosis for the carrier population is crucial for the reduction of the related birth defects. Our result may provide valuable information for the prevention and control of beta-thalassemia in this area.
Subject(s)
Female , Humans , Pregnancy , China , Genetic Counseling , Genetic Variation , Genotype , Mutation , Prenatal Diagnosis , alpha-Globins , Genetics , beta-Globins , Genetics , beta-Thalassemia , Diagnosis , GeneticsABSTRACT
Objective To isolate and culture the spontaneous ascites cells from Microtus fortis under artificial conditions, so as to investigate the molecular mechanism at the cell level. Methods The cells were isolated from spontaneous ascites of M. fortis artificially bred for 90 d,and were cultured and observed under a microscope. The differences of ascites cells among nor?mal,spontaneous ascites and schistosomiasis infected samples of M. fortis were compared. The lesion of tissue was observed si?multaneously. Results There were no obvious organ tissue lesions in M. fortis with spontaneous ascites,and the number and types of cells in peritoneal fluid were irregular and significantly changed. With the extension of culture time ,the colonies ap?peared and there were a large number of vacuole?like cells in the cultured medium and sequentially presenting proliferation ,de?formation,disintegration and the fiber?like changes and could be passaged 3-4 d only. Conclusion The cells from M. fortis with spontaneous ascites are similar to its abdominal cavity cells after infection of Schistosoma japonica.