RESUMEN
OBJECTIVE@#To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the family members. Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing.@*RESULTS@#The child was found to harbor homozygous c.905G>A (p.Arg302Gln) variants in exon 5 of the DPYS gene, for which her parents were both heterozygous carriers.@*CONCLUSION@#The homozygous c.905G>A (p.Arg302Gln) variants of the DPYS gene probably underlies the dihydropyrimidinase deficiency in the child. Above result has enabled genetic counseling and prenatal diagnosis for this family.
Asunto(s)
Niño , Femenino , Humanos , Amidohidrolasas/genética , Pueblo Asiatico/genética , Exones , Errores Innatos del Metabolismo/genética , Mutación , LinajeRESUMEN
Objective@#To detect potential mutation in a Chinese pedigree affected with congenital limb malformations.@*Methods@#Clinical data was collected. Genomic DNA was extracted from peripheral blood samples of family members. The zone of polarizing activity regulatory sequence (ZRS) were amplified by PCR and subjected to direct sequencing.@*Results@#Among the 13 individuals in this pedigree, there were 4 PPD patients, who were characterized by varying degrees of deformity. The female patients suffered triphalangeal thumb and preaxial polydactyly, while the male patients only had preaxial polydactyly. Only one patient had foot involvement. TA heterogeneous mutations was discovered in the ZRS (105C>G) in all patients, the same mutation was not detected in 2 healthy family members.@*Conclusion@#The inheritance pattern of PPD was autosomal dominant inheritance. There was a significant variability of symptoms among family patients. The heterozygous mutation of the ZRS (105C>G) probably underlie the disease.
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OBJECTIVE@#To detect potential mutation in a Chinese pedigree affected with congenital limb malformations.@*METHODS@#Clinical data was collected. Genomic DNA was extracted from peripheral blood samples of family members. The zone of polarizing activity regulatory sequence (ZRS) were amplified by PCR and subjected to direct sequencing.@*RESULTS@#Among the 13 individuals in this pedigree, there were 4 PPD patients, who were characterized by varying degrees of deformity. The female patients suffered triphalangeal thumb and preaxial polydactyly, while the male patients only had preaxial polydactyly. Only one patient had foot involvement. TA heterogeneous mutations was discovered in the ZRS (105C>G) in all patients, the same mutation was not detected in 2 healthy family members.@*CONCLUSION@#The inheritance pattern of PPD was autosomal dominant inheritance. There was a significant variability of symptoms among family patients. The heterozygous mutation of the ZRS (105C>G) probably underlie the disease.
Asunto(s)
Femenino , Humanos , Masculino , Pruebas Genéticas , Deformidades Congénitas de la Mano , Genética , Deformidades Congénitas de las Extremidades , Genética , Proteínas de la Membrana , Genética , Linaje , Polidactilia , Genética , Pulgar , PatologíaRESUMEN
<p><b>OBJECTIVE</b>To detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency.</p><p><b>METHODS</b>Genomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing.</p><p><b>RESULTS</b>The proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls.</p><p><b>CONCLUSION</b>The novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.</p>
Asunto(s)
Femenino , Humanos , Lactante , Masculino , Errores Innatos del Metabolismo de los Aminoácidos , Etnología , Genética , Secuencia de Aminoácidos , Pueblo Asiatico , Genética , Secuencia de Bases , China , Análisis Mutacional de ADN , Métodos , Discapacidades del Desarrollo , Etnología , Genética , Exones , Genética , Salud de la Familia , Heterocigoto , Intrones , Genética , Mutación , Homología de Secuencia de Aminoácido , Succionato-Semialdehído Deshidrogenasa , GenéticaRESUMEN
Objective To investigate the relationship between phosphatidylinositol 3-kinase catalytic subunit α(PIK3CA) expression and the incidence and different pathological grade of gastric cancer, and the mechanism thereof. Meth-ods The expressions of PIK3CA, serine/threonine protein kinase (pAkt) and cell proliferation associated nuclear antigen (ki-67) in gastric carcinoma and adjacent tissues and normal gastric mucosa were detected by immunohistochemical method. The relationship between expressions of PIK3CA, pAkt and ki-67 and tumorigenesis was analyzed. The expressions of PIK3CA, pAkt and ki-67 in different pathological conditions of gastric tissues were analyzed. The relationship between tu-mor pathologic classification and differentiation were analyzed too. Results There were significantly higher expressions of PIK3CA, pAkt and ki-67 in gastric cancer (P＜0.05), which were the highest in the poorly differentiated gastric adenocarci-noma (P＜0.05). There were a positive correlation between expressions of PIK3CA, pAkt and ki-67 and different pathologi-cal levels of gastric carcinoma and adjacent tissues and normal gastric tissues (P＜0.05). Conclusion PIK3CA may be the initiating factor of PI3K/Akt signaling pathway, which induced phosphorylation of Akt and activation PI3K/Akt signaling pathway, promoting the proliferation, invasion and metastasis of gastric adenocarcinoma.