多重定量荧光PCR快速检测染色体非整倍体疾病

Multiplex QF-PCR detection of aneuploid in chromosome X,Y,13,18,21

目的探讨多重定量荧光PCR快速检测染色体非整倍体标本疾病的价值。方法利用21,18,13号及X染色体上15个STR(短串联重复序列)位点进行多重PCR扩增,在24h内快速检测染色体非整倍体标本。通过建立两个多重PCR体系,对921例临床标本(包括外周血、绒毛膜及羊水标本)进行检测。结果 921例标本中915例结果与染色体核型结果相符,其中2例45,X外周血标本,2例21-三体综合征标本、1例46,XX标本未检出,1例羊水标本分析失败,与传统染色体核型分析方法相比,其灵敏度及特异度分别为97.64%、99.85%。结论多重定量荧光PCR技术可用于快速诊断非整倍体疾病。

Objective To explore the value of Multplex QF-PCR detection of aneuploid in chromosome X,Y, 13,18,21. Methods The detectiori of sex and aneuploidies involving chromosomes 21,18,13 and X using short tan dem repeat （STR） provides an exceptionally valuable tool for the prenatal diagnosis within 24 h after amniocentesis, CVS or fetal blood samples. Two separate multiplex PCR systems were established for the co-amplification of the specific 15 genetic markers. 921 clinical samples including amniocentesis,feta[ blood and peripheral blood were care fully verified. Results The results from QF-PCR were concordant with the karyotype for 915 of the 921 samples. A total of the remaining 6 samples required additional test. Two samples had a karyoptype 45,X and was uninformative for all X markers. One amniotic fluid sample was dark red stained and was suspected of being contaminated. Two samples had only one informative marker for chromosome 21, and the sample which had a karyotype 46 ,XX had only one informative marker for chromosome X. The sensitivity and specificity of QF-PCR were 97.64 %, 99.85 %. Conclu- sion Quantitative fluorescent PCR could be applied in rapid diagnosis of aneuploidies.