Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 244-249, 2022.
Article
en Zh
| WPRIM
| ID: wpr-928701
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan.@*METHODS@#A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the enzyme activity and clinical information were analyzed, sequencing was recommended after informed consent when it is necessary.@*RESULTS@#Among 1321 patients, a total of 768 mutations were detected out, with a detection rate of 58.1%. A total of 18 types of G6PD genotypes were identified, including c.1388G>A, c.1376G>T, c.95G>A, c.1024C>T, c.871G>A, c.392G>T, c.487G>A, c.1360C>T, c.1004C>A, c.517T>C, c.592C>T, c.94C>G, c.152C>T, c.320A>G, c.1028A>G, c.1316G>A, c.1327G>C and c.1376G>C, including 683 male hemizygotes, 3 female homozygotes, 80 female heterozygotes and 2 female compound heterozygous.@*CONCLUSION@#A total of 18 types of G6PD mutations are identified in the reaserch, and c.94C>G, c.1028A>G and c.1327G>C are first reported in Chinese population. The most common G6PD mutation types in Wuhan are c.1388G>A, c.1376G>T, c.95G>A.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Pueblo Asiatico
/
Genotipo
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Glucosafosfato Deshidrogenasa
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Deficiencia de Glucosafosfato Deshidrogenasa
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Heterocigoto
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Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Female
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Humans
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Male
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Newborn
Idioma:
Zh
Revista:
Journal of Experimental Hematology
Año:
2022
Tipo del documento:
Article