21-三体综合征孕妇的羊水和血浆氨基酸靶向定量分析

刘晓婷; 付玉荣; 马莹; 张文玲; 王晓菲; 汪伟伟; 张晨晰; 张立文; 王成彬

doi:10.3969/j.issn.2095-5227.2021.06.010

21-三体综合征孕妇的羊水和血浆氨基酸靶向定量分析

Targeted quantitative analysis of amino acids in amniotic fluid and plasma of pregnant women with trisomy 21

摘要

摘要:
背景 21-三体综合征是最常见的一种染色体数目异常疾病，但目前孕妇羊水和血浆中的氨基酸含量与21-三体综合征的相关性仍未明确。
目的靶向定量分析21-三体综合征孕妇的羊水和血浆中20种氨基酸，探讨氨基酸含量与21-三体综合征的相关性。
方法选取2018年3月- 2019年3月于解放军总医院第一医学中心行羊膜腔穿刺羊水染色体核型检测诊断为胎儿21-三体综合征的10例孕妇为实验组，同期羊穿诊断为胎儿核型正常的10例孕妇为对照组，通过超高效液相色谱-串联质谱(UPLC-MS/MS)靶向分析两组孕妇羊水和血浆中20种氨基酸含量，并统计分析两组差异。
结果羊水氨基酸定量分析结果表明，除脯氨酸(Pro)和牛磺酸(Tau)外，其他18种氨基酸含量实验组均较对照组低，其中10种氨基酸(Arg、Asp、Glu、Gly、Ile、Leu、Met、Phe、Ser、Val)含量差异有统计学意义(P＜0.05)。血浆氨基酸定量分析结果表明，20种氨基酸中有16种氨基酸含量实验组较对照组低，分别为Ala、Asp、Cys、Glu、Gly、His、Ile、Leu、Lys、Met、Phe、Ser、Thr、Trp、Tyr、Val；其中Gly含量差异有统计学意义(P=0.019)。
结论本研究证实了实验组羊水和血浆中氨基酸含量较对照组普遍偏低，羊水和血浆中的部分氨基酸与21-三体综合征的发生可能存在一定的相关性。

Abstract:
Backgrond Trisomy 21 is the most common chromosomal anomaly, but the correlation between the amino acid content of amniotic fluid and plasma in pregnant women and trisomy 21 is still unclear.
Objective To analyze amino acids related to trisomy 21 in amniotic fluid and serum of pregnant women, and investigate the correlation between amino acid and trisomy 21 syndrome.
Methods Pregnant women who underwent amniocentesis in the First Medical Center of Chinese PLA General Hospital from March 2018 to March 2019 were enrolled in the study, 10 pregnant women with trisomy 21 fetal karyotype were in testing group and 10 pregnant women with normal fetal karyotype were in control group. The contents of amino acids in amniotic fluid and serum were detected by ultra performance liquid chromatography tandem mass spectrometry. The difference of amino acids contents between the two groups was analyzed.
Results The results of quantitative analysis of amino acids in amniotic fluid showed that, except proline (Pro) and taurine (Tau), 18 kinds of amino acids in the testing group were lower than those in the control group, and 10 of them (Arg, Asp, Glu, Gly, Ile, Leu, Met, Phe, Ser, Val) showed statistically significant difference between the two groups (P＜0.05). The results of quantitative analysis of plasma amino acids showed that the contents of 16 kinds of amino acids in the testing group were lower than those in the control group, including Ala, Asp, Cys, Glu, Gly, His, Ile, Leu, Lys, Met, Phe, Ser, Thr, Trp, Tyr and Val, and the difference in Gly content between the two groups was significant (P=0.019).
Conclusion This study confirms that the amino acid content in amniotic fluid and plasma of trisomy 21 group is generally lower than that in the control group. Amino acids in amniotic fluid and plasma may be correlated with trisomy 21 syndrome.

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