【摘要】：目的:探討單核苷酸多態(tài)性芯片(SNP array)在唐氏篩查高風(fēng)險(xiǎn)孕婦胎兒染色體分析中的應(yīng)用價(jià)值。方法:選取312例因唐氏篩查高風(fēng)險(xiǎn)的孕婦,行羊膜腔穿刺術(shù)后獲得羊水,對羊水進(jìn)行G顯帶核型分析和SNP array檢測,比較核型分析與SNP array檢測結(jié)果,并按年齡分組比較拷貝數(shù)變異(CNVs)的發(fā)生率差別。結(jié)果:核型分析和SNP array均準(zhǔn)確發(fā)現(xiàn)2例21三體(0.64%),6例核型分析提示染色體平衡重組(1.92%)的樣本經(jīng)SNP array分析證實(shí)不存在重排片段重復(fù)或缺失。在303例核型正常的胎兒羊水細(xì)胞中,SNP array檢測發(fā)現(xiàn)176例CNVs,其中良性CNVs 106例,臨床意義不明確的CNVs(VOUS)61例,新發(fā)CNVs(de novo CNVs)9例,未發(fā)現(xiàn)已知的致病性CNVs。唐氏篩查高風(fēng)險(xiǎn)組與唐氏篩查高風(fēng)險(xiǎn)合并高齡組CNVs的分布差別無統(tǒng)計(jì)學(xué)意義(P0.05)。此外,本研究中首次報(bào)道14種CNVs。結(jié)論:SNP array可進(jìn)一步確定核型分析的平衡易位是否存在染色體微缺失/重復(fù)。在核型正常的胎兒中,SNP array可檢測出大量拷貝數(shù)異常,發(fā)現(xiàn)14種新的CNVs但現(xiàn)有數(shù)據(jù)庫無法判斷其臨床意義,需進(jìn)一步研究確認(rèn)。此外,孕婦年齡對胎兒基因組中新發(fā)CNVs的發(fā)生率無明顯影響。
[Abstract]:Objective: to evaluate the value of single nucleotide polymorphism chip (SNP array) (SNP (SNP array) in chromosome analysis of high risk pregnant women. Methods: after amniotic fluid was obtained from 312 pregnant women with high risk of screening for Down's disease, G-banding karyotype analysis and SNP array detection were performed on amniotic fluid. The results of karyotype analysis and SNP array test were compared. The incidence of copy number variant (CNVs) was compared by age group. Results: karyotype analysis and SNP array showed that 2 cases (0.64%) of trisomy 21 (0.64%) and 6 cases of chromosome balanced recombination (1.92%) were confirmed by SNP array analysis. Among 303 normal fetal amniotic fluid cells, 176 cases of CNVs, were detected by SNP array, including 106 cases of benign CNVs, 61 cases of CNVs (VOUS) with unclear clinical significance and 9 cases of new CNVs (de novo CNVs). No known pathogenicity CNVs. was found. There was no significant difference in the distribution of CNVs between the high risk group and the high risk group (P0.05). In addition, 14 CNVs. species were reported for the first time in this study. ConclusionSNP array can further determine the existence of chromosome microdeletion / duplication in the equilibrium translocation of karyotype analysis. SNP array can detect a large number of copy number abnormalities in normal fetal karyotype. Fourteen new CNVs can be found, but the existing database can not judge its clinical significance, which needs further study and confirmation. In addition, maternal age had no significant effect on the incidence of new CNVs in the fetal genome.
【作者單位】： 中山大學(xué)附屬第三醫(yī)院產(chǎn)科;中山大學(xué)附屬第三醫(yī)院產(chǎn)科實(shí)驗(yàn)室;
【基金】：廣東省科技計(jì)劃(No.2009B060700107) 中山大學(xué)達(dá)安基因股份有限公司廣州市醫(yī)學(xué)診斷技術(shù)和產(chǎn)品創(chuàng)新及應(yīng)用協(xié)同創(chuàng)新重大專項(xiàng)合作費(fèi)(No.201400000004-4)
【分類號】：R714.5

【共引文獻(xiàn)】

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