Molecular epidemiology of G6PD deficiency in Chaozhou area of eastern Guangdong Province / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 26-29, 2016.
Artículo
en Chino
| WPRIM
| ID: wpr-287957
ABSTRACT
<p><b>OBJECTIVE</b>To determine the incidence and molecular characteristics of G6PD deficiency in Chaozhou region of eastern Guangdong Province.</p><p><b>METHODS</b>G6PD enzyme activity was assayed with an auto-bioanalyzer. Reverse dot blotting (RDB) was used for detecting 6 common G6PD mutations. Samples with no mutation detected by RDB were further sequenced for unknown mutations.</p><p><b>RESULTS</b>The rate of G6PD deficiency was 3.36% (142/4224). 2.33% (47/2013) of males and 4.3% (95/2208) of females were affected. 12 mutations were detected among the 142 patients, which included c.1376G>T, c.1388G>A, c.1024C>T, c.392G>T, c.871G>A, c.95A>G, c.517T>C, c.131C>G, c.1376G>T/c.517T>C, c.871G>A/IVS-1193T>C/c.1311C>T, c.1376G>T/IVS-11, 93T>C/c.1311C>T and c.1376G>T/c.486_34delT (rs3216174).</p><p><b>CONCLUSION</b>The incidence of G6PD deficiency in Chaozhou region was lower than that of the Hakka population of Guangdong Province, and the mutation types were diversely distributed in this region. c.1376G>T, c.1388G>A and c.1024C>T were the most common mutations, which was followed by c.517T>C. In addition, c.131C>G has been first discovered in the Chinese population. c.1376G>T/c.517T>C and c.1376G>T/c.486_34delT(rs3216174) were new types of compound heterozygous mutations in females.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Datos de Secuencia Molecular
/
Secuencia de Bases
/
China
/
Epidemiología
/
Incidencia
/
Epidemiología Molecular
/
Etnología
/
Genética
/
Genotipo
/
Glucosafosfato Deshidrogenasa
Tipo de estudio:
Estudio de incidencia
/
Estudio pronóstico
/
Estudio de tamizaje
Límite:
Adolescente
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2016
Tipo del documento:
Artículo
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