RESUMEN
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. We aimed to provide the characteristics of G6PD deficiency and G6PD gene variant distribution in a large Chinese newborn screening population. We investigated the prevalence of G6PD in China from 2013 to 2017. Then, we examined G6PD activity and G6PD gene in representative Chinese birth cohort to explore the distribution of G6PD gene variant in 2016. We then performed multicolor melting curve analysis to classify G6PD gene variants in 10,357 neonates with activity-confirmed G6PD deficiency, and DNA Sanger sequencing for G6PD coding exons if hot site variants were not found. The screened population, organizations, and provinces of G6PD deficiency were increased from 2013 to 2017 in China. The top five frequency of G6PD gene variants were c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, and c.871G>A and varied in different provinces, with regional and ethnic features, and four pathogenic variant sites (c.152C>T, c.290A>T, c.697G>C, and c.1285A>G) were first reported. G6PD deficiency mainly occurs in South China, and the frequency of G6PD gene variant varies in different regions and ethnicities.
Asunto(s)
Variación Genética , Deficiencia de Glucosafosfato Deshidrogenasa/epidemiología , Deficiencia de Glucosafosfato Deshidrogenasa/genética , Glucosafosfato Deshidrogenasa/genética , Tamizaje Neonatal , Alelos , China/epidemiología , Mapeo Cromosómico , Análisis Mutacional de ADN/métodos , Femenino , Genes Ligados a X , Glucosafosfato Deshidrogenasa/metabolismo , Deficiencia de Glucosafosfato Deshidrogenasa/diagnóstico , Deficiencia de Glucosafosfato Deshidrogenasa/historia , Historia del Siglo XXI , Humanos , Incidencia , Recién Nacido , Masculino , Mutación , Tamizaje Neonatal/métodos , Tamizaje Neonatal/normas , Vigilancia de la PoblaciónRESUMEN
OBJECTIVE: To summarize the molecular epidemiology of hemoglobinopathies in Yongzhou area of Hunan province in order to provide a basis for making the guidelines of local thalassemia prevention program. METHODS: Two thousand and two samples (1001 couples) were randomly recruited based on demographic data and distribution of ethnic groups. All samples were subjected to full blood count and analysis of hemoglobin and 6 common alpha-thalassemia mutations. Known beta-thalassemia mutations were screened in samples with beta-thalassemia trait. The remaining samples with positive phenotype and unknown mutations were subjected to DNA sequence analysis. RESULTS: Two hundred and forty individuals were found to be carriers of hemoglobinopathic mutations, which included 6 common alpha-thalassemia deletions, 9 common beta-thalassemia mutations and 3 common structural hemoglobin variants. One hundred and seventy-four mutant alleles for alpha-thalassemia were detected, which gave a carrier rate of 8.69%, of which 0.1% was due to HbH disease. Seventy mutant alleles for beta-thalassemia were detected, which gave a carrier rate of 3.50%. Seven subjects (0.35%) were identified as carriers of hemoglobin variants. The overall carrier rate for hemoglobinopathic mutations was 12.54% based on detection of 251 hemoglobinopathy mutant alleles. The overall carrier rate for alpha- and beta-thalassemia among ethnic Yaos was 25.00%, which was significantly higher than that of ethnic Han Chinese (11.14%, P< 0.01). CONCLUSION: The prevalence and mutation spectrum of hemoglobinopathies in Yongzhou area has been delineated for the first time.
Asunto(s)
Hemoglobinopatías/genética , Mutación , Adulto , China/epidemiología , China/etnología , Femenino , Hemoglobinopatías/epidemiología , Heterocigoto , Humanos , Masculino , Epidemiología Molecular , Adulto JovenRESUMEN
OBJECTIVE: To explore the effects of c-met-siRNA on the growth and invasion of hepatocellular carcinoma MHCC97-H cells by pSuppressorRetro/c-met-siRNA recombinant plasmid transfection. METHODS: Recombinant plasmid transfection to Phoenix A cells was constructed using the lipofectin method and then the retrovirals containing c-met-siRNA were used to infect target cells MHCC97-H. In vitro, c-met expression was tested by Western blot. Cell proliferation, motility and invasiveness were studied using MTT, cell migration assay, and cell invasion assay, respectively. RESULTS: The expression of c-met decreased significantly in MHCC97-H cells, and the most effective site of the target sequence was at 537. The growth, motility and invasiveness of MHCC97-H cells were inhibited. CONCLUSION: The results indicate that c-met-siRNA can down-regulate the expression of c-met and inhibit hepatocellular carcinoma cell proliferation, motility and invasiveness.