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叶酸代谢基因多态性及Hcy水平与新生儿早产、出生体重的关系
引用本文:梁罕超,胡碧英,许冠杰. 叶酸代谢基因多态性及Hcy水平与新生儿早产、出生体重的关系[J]. 罕少疾病杂志, 2020, 27(3): 86-87,112. DOI: 10.3969/j.issn.1009-3257.2020.03.031
作者姓名:梁罕超  胡碧英  许冠杰
作者单位:广东省惠州市第二妇幼保健院检验科 广东惠州 516001;广东省惠州市第二妇幼保健院检验科 广东惠州 516001;广东省惠州市第二妇幼保健院检验科 广东惠州 516001
摘    要:目的探究叶酸代谢基因多态性及同型半胱氨酸(Hcy)水平与新生儿早产、出生体重的关系。方法选取我院2018年11月~2019年3月收治的80例孕妇进行研究,于孕早期采集口腔黏膜标本予以检测,以检测结果为标准,将叶酸代谢障碍遗传风险分为无/低风险(39例)和中/高风险(41例);同时检测孕妇的Hcy水平,并详细记录。分析不同基因型及Hcy水平与新生儿早产、出生体重的相关性。结果Hcy水平与新生儿出生体重呈正相关(r=0.168,P=0.002),MTRR A66G基因型与新生儿早产呈正相关(r=0.174,P=0.001),基因型总风险与新生儿早产呈正相关(r=0.159,P=0.004)。中/高风险孕妇早产率为20.51%(8/39),无/低风险孕妇早产率为4.88%(2/41),中/高风险孕妇早产率高于无/低风险组,差异有统计学意义(P<0.05)。分娩巨大儿孕妇Hcy水平为(5.76±0.73)μmol/L,分娩正常体重儿孕妇Hcy水平为(4.23±0.59)μmol/L,分娩极低体重儿孕妇Hcy水平为(4.01±0.56)μmol/L,分娩巨大儿孕妇Hcy水平高于分娩正常体重儿孕妇和分娩极低体重儿孕妇HCY水平,差异有统计学意义(P<0.05)。叶酸代谢障碍不同风险程度出生体重分布相比,差异无统计学意义(P>0.05)。结论叶酸代谢能力与早产具有相关性,叶酸代谢障碍越严重,早产儿的发生率越高;孕妇Hcy水平与新出生儿体重具有相关性,孕妇Hcy水平越高,新生儿出生体重越重。

关 键 词:叶酸代谢基因多态性  同型半胱氨酸  早产  出生体重

Relationship between Folate Metabolism Gene Polymorphism and Hcy Level and Neonatal Preterm Birth and Birth Weight
LIANG Han-chao,HU Bi-ying,XU Guan-jie. Relationship between Folate Metabolism Gene Polymorphism and Hcy Level and Neonatal Preterm Birth and Birth Weight[J]. Journal of Rare and Uncommon Diseases, 2020, 27(3): 86-87,112. DOI: 10.3969/j.issn.1009-3257.2020.03.031
Authors:LIANG Han-chao  HU Bi-ying  XU Guan-jie
Affiliation:(Department of Clinical Laboratory,Huizhou Second Maternal and Child Health Hospital,Huizhou 516001,Guangdong Province,China)
Abstract:Objective To investigate the relationship between folate metabolism gene polymorphism and homocysteine(Hcy)levels and preterm birth and birth weight in neonates.Methods Eighty pregnant women admitted to our hospital from November 20 to March 2019 were enrolled in the study.Oral mucosa specimens were collected in the early pregnancy and tested.The test results were used as criteria to classify the genetic risk of folate metabolism disorders into no/low risk.(39cases)and medium/high risk(41cases);Hcy levels of pregnant women were also tested and recorded in detail.The correlation between different genotypes and Hcy levels and neonatal preterm birth and birth weight were analyzed.Results Hcy levels were positively correlated with neonatal birth weight(r=0.168,P=0.002).MTRR A66G genotype was positively correlated with neonatal preterm birth(r=0.174,P=0.001).The total genotype risk was positive with neonatal preterm birth.Correlation(r=0.159,P=0.004).The preterm birth rate of middle/high risk pregnant women was 20.51%(8/39),the preterm birth rate of no/low risk pregnant women was 4.88%(2/41),and the preterm birth rate of middle/high risk pregnant women was higher than that of no/low risk group.Academic significance(P<0.05).The Hcy level of pregnant women with large births was(5.76±0.73)μmol/L,the Hcy level of pregnant women with normal weight was(4.23±0.59)μmol/L,and the Hcy level of pregnant women with very low birth weight was(4.01±0.56)μmol/L.Hcy levels in pregnant women with high birth weight were higher than those in pregnant women with normal weight and low birth weight in pregnant women.The difference was statistically significant(P<0.05).There was no significant difference in the distribution of birth weight between different risk factors of folic acid metabolism disorder(P>0.05).Conclusion The folate metabolism ability is associated with premature birth.The more severe the folic acid metabolism disorder,the higher the incidence of premature infants.The Hcy level of pregnant women is related to the weight of new born children.The higher the Hcy level of pregnant women,the heavier the birth weight of newborns.
Keywords:Folate Metabolism Gene Polymorphism  Homocysteine  Preterm Birth  Birth Weight
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