Analysis of Gene Mutation Types of Thalassemia in Fuzhou Area of China / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 893-898, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-771866
ABSTRACT
OBJECTIVE@#To investigate the gene mutation types and spectrum of α, β-thalassemia in Fuzhou area of China.@*METHODS@#Thalassemia gene screening was performed in the women receiving physical, prenatal, and pre-pregnancy examination, and the patients with suspected thalassemia in our hospital from July 2013 to March 2018.Genotypes of thalassem were detected by Gap-PCR and RDB-PCR.@*RESULTS@#1042 were positive among 2074 suspected cases with a positive rate of 50.24%; 618 cases were confirmed to be α-thalassemia and with a positive rate of 29.8%; 409 cases were confirmed to be β-thalassemia with a positive rate of 19.72%. 15 cases were confirmed to be α-β complex thalassemia with a positive rate of 0.72%. the --/αα(76.54%) was the most common genotype among α-thalassemia, -α/αα(10.03%) and -α/αα(2.91%) in hot pursuit. In addition, IVS-II-55 (T->G) and IVS-II-119 (-G, +CTCGGCCC) were newly found alpha mutations; the IVS-2-654 (C→T) (40.83%) was the most common genotype among β-thalassemia, CD41-42 (-TCTT) (35.94%) and CD17 (A→T) (9.78%) in hot pursuit.@*CONCLUSION@#The genotype of thalassemia in Fuzhou area is highly heterogenic, --/αα is the most common genotype among α-thalassemia, IVS-2-654 (C→T) is the most common genotype among β-thalassemia, Meanwhile, two α-mutation sites are found in this study which were not reported in the Database of Human Hemoglobin Variants and Thalassemias.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
China
/
Talassemia beta
/
Talassemia alfa
/
Genótipo
/
Mutação
Limite:
Feminino
/
Humanos
/
Gravidez
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Journal of Experimental Hematology
Ano de publicação:
2019
Tipo de documento:
Artigo
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