With the rapid development of modern science and technology,the post-genomics period has come with the complement of the sequence of body genome including several tens of human genome,the emphasis of life science transfer from instruction genome to the post-genomics period,functional genome.Proteomics is the most important part of it.The technology of proteomics is advanced day by day.Except the classical two dimensional gel electrophoresis,the technology of multi-dimensional liquid chromatography and the technology of isotope coded-affinity tags have been successively developed,as well as protein chip and phage display have been applied extensively.This article simply summarizes the key technologies of proteomics.

OBJECTIVE: To explore the clinical and genetic characteristics of a patient with Hermansky-Pudlak syndrome type 5 (HPS-5). METHODS: A child with HPS-5 who had attended the Children's Hospital Affiliated to Shandong University on October 3, 2019 was selected as the study subject. Clinical data of the child were collected. Genetic variant was analyzed through high-throughput sequencing. A literature review was also carried out. RESULTS: The child, a 1-year-and-5-month-old girl, had nystagmus since childhood, lost of retinal pigmentation by fundus examination and easy bruising. High-throughput sequencing revealed that she has harbored compound heterozygous variants of the HPS5 gene, namely c.1562_1563delAA (p.F521Sfs*27) and c.1404C>A (p.C468X), which were inherited from his father and mother, respectively. Based on the guidelines from the American College for Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PVS+PM2_Supporting+PM3+PP4). Among 18 previously reported HPS-5 patients, all had had eye problems, and most of them had tendency for bleeding. Eight cases had carried compound heterozygous variants of the HPS5 gene, 8 carried homozygous variants, 2 carried double homozygous variants, and most of them were null mutations. CONCLUSION The c.1562_1563delAA(p.F521Sfs*27) and c.1404C>A (p.C468X) compound heterozygous variants of the HPS5 gene probably underlay the HPS-5 in this child. High-throughput sequencing has provided an important tool for the diagnosis. HSP-5 patients usually have typical ocular albinism and/or oculocutaneous albinism and tendency of bleeding, which are commonly caused by compound heterozygous and homozygous variants of the HPS5 gene, though serious complications have been rare.
Female ; Humans ; Infant ; Hermanski-Pudlak Syndrome/pathology* ; High-Throughput Nucleotide Sequencing ; Mutation