Objective To study the role of mutation of p300/CBP gene in the development of human gastric carcinoma (GC) . Methods Mutations analysis of the p300/CBP gene were carried out in 30 fresh GC samples using a combination of polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) and DNA sequencing,and compared with gastric mucosa distance from the GC. Results p300/CBP genes mutations were detected in 4 of 30 fresh GCs. All the mutation were point mutations, including T to G in nucleotide 4741, 4773,4847 and 4881 in genomic DNA of p300. The mutation site was in the non-coding area in nucleotid 4741;whereas in the others were in the coding area, leading to the change of the amino acids, induding Ser to Arg in nucleotide 4773, Val to Ala in nucleotide 4847 and 4881, respectively. Of the 30 patients, 4 cases with the single site mutation were discovered, 2 cases had the first two sites mutation, while the others had all the four sites mutation. Conclusions Two to four poiuts mutation of p300/CBP gene are presented in GC.

Objective:To explore the clinical phenotype and genetic etiology for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease (ADPKD).Methods:A pedigree with ADPKD diagnosed at the Department of Gynaecology of the First Affiliated Hospital of Zhengzhou University in December 2020 was selected as the study subject. Clinical data of the pedigree was collected, and whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the proband and her relatives. This study was approved by the First Affiliated Hospital of Zhengzhou University (Ethics No. KS-2018-KY-36).Results:Fetal ultrasonography showed increased volume and parenchymal echogenicity in both kidneys. The fetus was found to harbor c. 11098C>T (p.R3700C) and c.11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene, which were respectively inherited from its mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PM1+ PM2_Supporting+ PP3). Conclusion:The c. 11098C>T (p.R3700C) and c. 11039T>C (p.F3680S) compound heterozygous variants of the PKD1 gene probably underlay the ADPKD in the fetus. Above finding has provided guidance for the genetic counseling and prenatal diagnosis for this pedigree.