Retinoblastoma matosis RB1 gene mutations in human cells detection of.doc

 PAGE \* MERGEFORMAT 10 Retinoblastoma matosis RB1 gene mutations in human cells detection of Author: Sheng Xun-lun, Wu Weimin, Zhuangwen Juan, Yung-Ning, Wang Juan, Xia Mei-hua, Zhang Ling 【Abstract】 Objective To detect the retinoblastoma (RB) patients in the RB1 gene mutations in somatic cells to explore the RB1 gene mutations in the molecular biological mechanism. PCR-SSCP technique leukocyte genomic screening for RB patients DNA, sequencing to determine mutation. Results in 12 patients with RB, RB1 gene identified three cases of germ cell mutations. They are the first T in exon 10 to A heterozygous mutation, the coding sequence of phenylalanine into tyrosine-coding sequence; Article 10 of exon 1bp base deletion (GAT → AT), occurred reading frame change; the first 22 exons of A to T heterozygous mutation, the Arg sequence into a stop codon. Conclusion This three cases of RB1 gene mutations in germ cells of the way for the point mutation and small deletion, these mutations change the genetic information of the RB1 gene, leading to abnormal RB1 gene and protein production, leading to the occurrence of retinoblastoma. Keywords: Retinoblastoma RB1 gene mutation Detection of heterozygous mutations of RB1 gene in patients with retinoblastoma 【Abstract】 Objective To study RB1 heterozygous mutations in patients with retinoblastoma.Methods Genomic DNA was used as a template for the PCR reaction to amplify all exons of RB1 gene.se PCR products were screened by single strand conformation polymorphism (SSCP) and subjected to direct sequencing.Results Three germcell mutations in the RB1 gene were identified in collected genomic DNA from RB patients: a T to A transition (TTC → TAC) at exon 10, a deletion G (GAT → AT) at exon 10, a A to T transition (AAG → ATG) at exon 22.Conclusion Mutations in RB1 gene are involving a few base pairs in this study.As a result of such mutation, the normal function of RB is usually disrupted, and retinoblas