Prader-Willi syndrome molecular typing preliminary study on diagnostic methods.doc

 PAGE \* MERGEFORMAT 18 Prader-Willi syndrome molecular typing preliminary study on diagnostic methods Author: Hong-Yi Li, Li Haifei MENG Shu, ZOU Xiao-bing, ZHENG Hui, CHEN Zheng, Duan Hong-lei 【Abstract】 【Objective】 Prader-Willi syndrome (PWS) of short tandem repeat (STR) linkage analysis of diagnostic methods, for genetic counseling to provide relevant information. 【Methods】 The clinical case of suspected cases by methylation-specific PCR (MS-PCR) diagnosis of PWS, the application of chromosome 15 specific STR regions for family-based linkage analysis to explore the type of molecular defect in the diagnosis of PWS the feasibility of . 【Results】 STR linkage analysis revealed that the parent source of deletion in patients with PWS. 【Conclusion】 STR linkage analysis is an accurate diagnosis of PWS may be the molecular defect types and clearly a good way; people-related areas STR loci and its multi-state information to be further research to improve and eventually the establishment of this method. Keywords: Prader-Willi syndrome; short tandem repeat sequences; linkage analysis; genomic imprinting Abstract: 【Objective】 The purpose of this research was to apply the molecular diagnostics to Chinese Prader-Willi Syndrome (PWS) patient, and finally provide genetic counseling to PWS families. 【Methods】 In addition to methylation-special PCR (MS-PCR ), a new method of linkage analysis by six short tandem repeat (STR) was used to detect the molecular genetic defect of one Chinese PWS case. 【Result】 This patient could be diagnosed as PWS by Methylation-special PCR and STR linkage analysis. Also, the linkage analysis revealed that the patient had the paternal deletion of 15q11-q13. 【Conclusion】 This STR linkage analysis can identify the molecular defect of PWS cases quickly and accurately. With more STR loci analyzed and their polymorphism information content obtained, this linkage analysis method could be better developed and become a potenti