FISH和QF-PCR在胎儿染色体疾病的快速产前诊断中的应用研究  

The apllied research of FISH and QF-PCR in rapid prenatal diagnosis for fetalchromosomes abnormality

作　　者：刘翠翠[1] 俞冬熠 王修海[1] 

机构地区：[1]青岛大学医学院遗传教研室 [2]青岛市妇女儿童医院遗传科,山东青岛266071

出　　处：《中国优生与遗传杂志》2013年第5期40-42,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)和荧光定量PCR(quantitative fluorescentpolymerase chain reaction,QF-PCR)在染色体异常快速产前诊断中的临床应用价值。方法已确诊的羊水培养染色体核型分析样本22例,其中包括21三体、18三体、13三体、47,XXY、45,X各2例,47,XXX 1例,嵌合体45,X[16]/46,XY[84]1例,正常男性和女性胎儿标本各5例。取其羊水或脐血,针对21、18、13、X、Y染色体,同时进行FISH和QF-PCR检测,并与染色体核型分析结果比较。结果与核型分析结果相比:除嵌合体外FISH和QF-PCR结果符合率为100%;FISH嵌合体结果为45,X[23]/46,XY[77];QF-PCR荧光峰图AMXY位点X、Y峰面积比为1.66,其余3个STR位点为单峰。结论两种方法均可以应用于常见染色体13、18、21、X和Y非整倍体的快速产前诊断。Objective： To discuss the value of fluorescence in situ hybridization （FISH） and quantitative fluorescent polymerase chain reaction （ QF - PCR） in rapid prenatal diagnosis for fetal chromosomes abnormality, and compare the accuracy, specificity and efficiency. Methods： In 22 pregnant women, their karyotype results had been determined, there were two cases for trisome 21, tri- some 18, trisomel3, 47, X-XY, 45, X respectively; 1 cases for47, XXX and 1 case for mosaic45, X [16] /46, XY [84]; 5 cases for normal male and female fetus respectively. Collect their amniotic fluid to do FISH and QF - PCR. then compare the results with karyotype results. Results ： Comparing with karyotype results, the coincidence of FISH and QF - PCR was 100% except the mo- saic ; FISH results of the mosaic was 45, X [ 23 ] /46, XY [ 77 ] ; QF - PCR results of the mosaic ： the area ratio of X, Y was 1.66 on the AMXY site, the other 3 STR sites were all single peak. Conclusions ： FISH and QF - PCR all could be used to detect fe- tal chromosome aneuploidy abnormality diseases （ep 13, 18, 21 and sex chromosome abnormalities）.

关 键 词：染色体 FISH QF-PCR 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]