CAJ | 학술논문

目的：探讨从孕妇外周血中筛选和分离胎儿21号染色体上的PLAC4、COL6A1基因mRNA的方法及其临床应用价值。方法选择2008年10月至2009年11月在潍坊市人民医院行产前检查的孕7 ～16周的单胎健康孕妇30例为孕妇组，来院体检的非孕妇女9例为对照组。采用荧光定量PCR技术检测两组妇女外周血中PLAC4mRNA和COL6A1 mRNA的表达水平。并对外周血中PLAC4、COL6A1 mRNA表达水平与孕龄进行相关性分析。结果 (1) PLAC4:孕妇组妇女外周血中PLAC4mRNA表达水平的最小值为2.105×103 copy/ml，最大值为12.760×103 copy/ml，中位数为6.612×103 copy/ml；而对照组妇女外周血中均未检测到PLAC4 mRNA的存在，两组比较，差异有统计学意义(P＜0.01)。(2) COL6A1：两组妇女外周血中均能检测到COL6A1 mRNA的表达，孕妇组妇女外周血中COL6A1 mRNA的表达水平中位数为6.847×103 copy/ml，对照组妇女7.322×103 copy/ml，两组比较，差异无统计学意义（P＞0.05）。(3)相关性分析：孕妇组妇女外周血中PLAC4 mRNA和COL6A1 mRNA表达水平与孕龄均无相关性（r分别为0.29和0.31，P值分别为0.121和0.168）。结论健康孕妇和非孕妇女外周血中均能检测到COL6A1 mRNA的表达，对妊娠不具有特异性；而PLAC4mRNA只在孕妇外周血中可以检测到，而非孕妇女中则检测不到，PLAC4 mRNA具有妊娠特异性，可作为21三体综合征产前诊断的生物学标志物。
목적：탐토종잉부외주혈중사선화분리태인21호염색체상적PLAC4、COL6A1기인mRNA적방법급기림상응용개치。방법선택2008년10월지2009년11월재유방시인민의원행산전검사적잉7 ～16주적단태건강잉부30례위잉부조，래원체검적비잉부녀9례위대조조。채용형광정량PCR기술검측량조부녀외주혈중PLAC4mRNA화COL6A1 mRNA적표체수평。병대외주혈중PLAC4、COL6A1 mRNA표체수평여잉령진행상관성분석。결과 (1) PLAC4:잉부조부녀외주혈중PLAC4mRNA표체수평적최소치위2.105×103 copy/ml，최대치위12.760×103 copy/ml，중위수위6.612×103 copy/ml；이대조조부녀외주혈중균미검측도PLAC4 mRNA적존재，량조비교，차이유통계학의의(P＜0.01)。(2) COL6A1：량조부녀외주혈중균능검측도COL6A1 mRNA적표체，잉부조부녀외주혈중COL6A1 mRNA적표체수평중위수위6.847×103 copy/ml，대조조부녀7.322×103 copy/ml，량조비교，차이무통계학의의（P＞0.05）。(3)상관성분석：잉부조부녀외주혈중PLAC4 mRNA화COL6A1 mRNA표체수평여잉령균무상관성（r분별위0.29화0.31，P치분별위0.121화0.168）。결론건강잉부화비잉부녀외주혈중균능검측도COL6A1 mRNA적표체，대임신불구유특이성；이PLAC4mRNA지재잉부외주혈중가이검측도，이비잉부녀중칙검측불도，PLAC4 mRNA구유임신특이성，가작위21삼체종합정산전진단적생물학표지물。
Objective To investigate the methods and clinical significance of detecting PLAC4 and COL6A1 gene on fetal chromosome 21 from maternal peripheral blood. Methods From Oct. 2008 to Nov. 2009 30 normal pregnancies in Weifang People's Hospital were selected as pregnant group, and 9 nonpregnant women were selected as control group. Quantitative real-time PCR was used to determine transcript levels of the target genes ( PLAC4 and COL6A1 ) in blood samples. Correlation between the expression level and gestational age was analyzed. Results ( 1 ) PLAG4 mRNA was detected in peripheral blood of all pregnant women. Its maximum level was 12. 760 × 103 copies/ml, whereas the minimum was 2. 105 × 103 copies/ml, and the average value is 6. 612 × 103 copies/ml. In control group the PLAC4 mRNA could not be detected. There was statistically significant difference ( P ＜ 0. 01 ) between the two groups. ( 2 ) COL6A1 mRNA is detected in pregnant group and control group, and the concentration was 6. 847 × 103 copies/ml and 7. 322 × 103 copies/ml respectively, with no statistically significant difference ( P ＞ 0. 05 ). ( 3 ) Correlation analysis: there was no relationship between the level of PLAC4, COL6A1 mRNA and the gestational age, the correlation coefficients (r) were 0. 29 and 0. 31, and the P values were 0. 121 and 0. 168 respectively. Conclusions COL6A1 mRNA can be detected in both pregnant group and control group, so it is not specific for pregnancy. PLAC4 mRNA can be detected only in pregnant women, so it has specificity in pregnancy and can be a discriminative marker gene for prenatal dignosis of trisomy 21 fetuses.