Variation analysis of genes associated with Usher syndrome type 1 in 136 Chinese deafness families / 中华耳鼻咽喉头颈外科杂志

Objective: To investigate the variation of genes associated with Usher syndrome type 1(USH1)in 136 Chinese deafness families from Henan province. Methods: The data of 136 deafness families tested by next-generation sequencing(NGS) which identified in the center of genetics and prenatal diagnosis of the First Affiliated Hospital of Zhengzhou University from November 2016 to December 2019 were analysized and the variation frequency of six genes related to Usher syndrome type 1(MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2) were summarized. Results: Five deafness families were detected nine pathogenic or likely pathogenic variations in two genes, accounting for 3.7% of all families. Among them, four families were caused by MYO7A variations and one family was caused by CDH23 variation. Meanwhile, seven variations of two genes were reported for the first time. They were c.313delG, c.5257dupA, c.5435A>T, c.5636G>C, c.5722T>G of MYO7A, and c.155_166del, c.4802delA of CDH23. The patients' vision of family 2 and family 3 had no obvious abnormality at present, but according to genetic diagnosis and walking dealy, they were considered to be USH1. Conclusions: MYO7A is the most common caustive gene associated with USH1 in Henan deafness patients, the application of next-generation sequencing technology can make USH1 patients diagnosed earlier before the visual symptoms appear.

Location of resources in personal digital library with P2 P technology based on interests of users / 中华医学图书情报杂志

A P2P technology-based personal digital library sharing model, MIPDLM, was established using the P2 P technology according to the decentralized characteristics of personal digital library in order to improve the per-sonal digital library sharing, in which the topology remodeling was studied according to the interest clusters in per-sonal digital library. The searched messages are constantly transmitted to personal digital library with a high interest similarity, which can thus reduce the searching scope. Simulation experiment showed that MIPDLM could improve the successful searching rate, reduce the average path length, and increase the location rate of resources.