FISH在Williams综征患者诊断中的应用-心胸外科专业毕业论文.docx

ABSTRACTObjective：To ABSTRACT Objective：To make a definite diagnosis of Williams syndrome by Fluorescence in Situ Hybridization technology．To investigate the clinical characteristics of WS，in order to diagnosis it． Method：There were three suspensive Williams syndrome patients．The clinical characteristics of the patients were investigated by case history， medical examination and laboratory examination．The assessments of three suspensive Williams syndrome patients were made by the mani岛st score list of Williams syndrome．The caryotype analysis of three suspensive Williams syndrome patients was made by high-resolution of G-banding technology．The micrwloss in the number 7 chronlosonle、Ⅳas tested by BAC--FISH technology． Results： 1．Clinical characteristics of manifest score in the three patients Was 6、2and7． 2·No abnormality of caryotype analysis was found in the tIll．ee patients． 3·There were micr--loss of elastin genes in the number 7 chromosome in the number I and number HI patient by FISH technology but no abnormality Was found in the nun由er II patient． Conclusion：The Williams syndrome clinical characteristics of manifest score may be useful for the patients of supravalvular aortic stenosis with clinical characteristics．For the most suspensive Williams syndrome patients，the FISH technology can be made to make a definite diagnosis． Key words：Supravalvular aortic stenosis，Williams syndrome，diagnosis， FISH Ⅱ 英文缩写词汇集表FISH 英文缩写词汇集表 FISH Fluorescence In Situ Hybridization 荧光原位杂交 WS Williams Syndrome Williams综合征 SVAS Supravalvular aortic stenosis 主动脉瓣上狭窄 BAC Bacterial Artificial Chromosome 细菌人工染色体 YAC Yeast Artificial Chromosome 酵母人工染色体 PCR Polymerase Chain Reaction 多聚酶链式反应 EDTA Ethylenediaminetetraacetieacid 乙二胺四乙酸 BSA bovine serum albumin 牛血清白蛋白 DS dextran sulfate 硫酸葡聚糖 SSC standard saline citrate 标准枸椽酸盐水 SDS sodium dodecyl sulphate 十二烷基硫酸钠 PBS phosphate buffered solution 磷酸盐缓冲溶液 原创性声明本人声明，所呈交的学位论文是本人在导师指导下进行的研究 原创性声明 本人