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1.
Chinese Journal of Medical Genetics ; (6): 801-804, 2019.
Artigo em Chinês | WPRIM | ID: wpr-776802

RESUMO

OBJECTIVE@#To analyze the phenotype and genetic mutations in a pedigree affected with factor Ⅺ (FⅪ) deficiency.@*METHODS@#Activated partial thromboplastin time (APTT), FⅪ activity (FⅪ:C) and FⅪ antigen (FⅪ:Ag) were determined for the proband and his family members. All exons and exon-intron boundaries of the FⅪ gene of the proband were analyzed by direct sequencing. Suspected mutation was verified in his family members.@*RESULTS@#The proband had APTT of 82.4 s, FⅪ:C of 0.8%, and FⅪ:Ag of T (Lys327X) mutation in exon 10 and c.1325delT (Leu424CysfsX8) mutation in exon 12 of the FⅪ gene. His elder sister, son, daughter, two granddaughters and one grandson were heterozygous carriers of the c.1033A>T mutation, while his older sister and younger brother were heteozygous carriers of the c.1325delT mutation. Analysis using Mutation Taster software showed that both p.Lys327X and p.Leu424CysfsX8 may affect the function of protein and lead to the corresponding disease.@*CONCLUSION@#The novel mutations of Lys327X and Leu424CysfsX8 of the the FⅪ gene probably underlie the pathogenesis of congenital coagulation factor Ⅺ deficiency in this pedigree.


Assuntos
Feminino , Humanos , Masculino , Éxons , Fator XI , Genética , Deficiência do Fator XI , Genética , Heterozigoto , Mutação , Linhagem
2.
Chinese Journal of Medical Genetics ; (6): 26-29, 2016.
Artigo em Chinês | WPRIM | ID: wpr-287957

RESUMO

<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>


Assuntos
Adolescente , Feminino , Humanos , Masculino , Sequência de Bases , China , Epidemiologia , Etnologia , Genótipo , Glucosefosfato Desidrogenase , Genética , Deficiência de Glucosefosfato Desidrogenase , Epidemiologia , Etnologia , Genética , Incidência , Epidemiologia Molecular , Dados de Sequência Molecular , Mutação
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