Gene mutation

Clinical and genetic analyses of Chinese patients with Gitelman syndrome

M. Miao, Zhao, C. Q., Wang, X. L., Shan, Z. Y., Miao, M., Zhao, C. Q., Wang, X. L., and Shan, Z. Y., “Clinical and genetic analyses of Chinese patients with Gitelman syndrome”, vol. 15, p. -, 2016.

To evaluate the genotype-phenotype relationship of Gitelman syndrome in Chinese patients. We selected patients with Gitelman syndrome presenting hypokalemia. Medical history, clinical manifestations, laboratory test results, and imaging data of these patients were collected for analysis. Target gene sequencing was performed to evaluate the genotype-phenotype relationship. Gitelman syndrome was diagnosed based on medical history, clinical manifestations, laboratory test results, and imaging data.

Analysis of regulatory mechanism after ErbB4 gene mutation based on local modeling methodology

C. L. Chen, Zhao, J. W., Chen, C. L., and Zhao, J. W., “Analysis of regulatory mechanism after ErbB4 gene mutation based on local modeling methodology”, vol. 15, p. -, 2016.

ErbB4 is an oncogene belonging to the epidermal growth factor receptor family and contributes to the occurrence and development of multiple cancers, such as gastric, breast, and colorectal cancers. Therefore, studies of the regulation of ErbB4 in cancerigenic pathway will advance molecular targeted therapy.

Analysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia

X. H. Guo, Sun, Y. F., Cui, M., Wang, J. B., Han, S. Z., Miao, J., Guo, X. H., Sun, Y. F., Cui, M., Wang, J. B., Han, S. Z., and Miao, J., “Analysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia”, vol. 15, p. -, 2016.

This study was carried out to analyze uridine diphosphate (UDP)-glucuronosyltransferase 1A1 (UGT1A1) gene mutations in neonates with unconjugated hyperbilirubinemia, from two different ethnic groups. Polymerase chain reaction and gene sequencing were used to analyze the differences in genotypes and allele frequencies of different gene mutations among the ethnic groups; this was followed by checking their correlation with the serum bilirubin level and the occurrence of unconjugated hyperbilirubinemia in neonates.

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