{"title":"MTHFR 677 C > T 基因多态性与巨大胎龄儿有关。","authors":"Raziye Akcılar, Emine Esin Yalınbaş, Fezan Mutlu","doi":"10.1080/15513815.2024.2352755","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>The aim of this study was to investigate the methylenetetrahydrofolate reductase (MTHFR) 677 C > T gene polymorphism in term infants born small (SGA), appropriate (AGA), and large for gestational age (LGA).</p><p><strong>Methods: </strong>The study comprised 165 newborns with SGA, LGA and AGA. Genomic DNA was isolated from the peripheral blood. Samples were genotyped for MTHFR 677 C > T gene polymorphisms using PCR-RFLP.</p><p><strong>Results: </strong>There was a statistically significant difference between the genotype and their allelic distribution of AGA, SGA, and LGA. The newborns carrying the TT genotype had higher birth weight than those carrying the CC and CT genotypes. The frequency of MTHFR 677 TT genotype and T allele was significantly higher and was found to be linked with a higher risk in LGA than in the AGA group.</p><p><strong>Conclusions: </strong>The MTHFR 677 C > T gene polymorphism can be used as a genetic marker in Turkish LGA newborns, but not in SGA.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"234-245"},"PeriodicalIF":0.6000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"MTHFR 677 C > T Gene Polymorphism is Associated with Large for Gestational Age Infants.\",\"authors\":\"Raziye Akcılar, Emine Esin Yalınbaş, Fezan Mutlu\",\"doi\":\"10.1080/15513815.2024.2352755\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>The aim of this study was to investigate the methylenetetrahydrofolate reductase (MTHFR) 677 C > T gene polymorphism in term infants born small (SGA), appropriate (AGA), and large for gestational age (LGA).</p><p><strong>Methods: </strong>The study comprised 165 newborns with SGA, LGA and AGA. Genomic DNA was isolated from the peripheral blood. Samples were genotyped for MTHFR 677 C > T gene polymorphisms using PCR-RFLP.</p><p><strong>Results: </strong>There was a statistically significant difference between the genotype and their allelic distribution of AGA, SGA, and LGA. The newborns carrying the TT genotype had higher birth weight than those carrying the CC and CT genotypes. The frequency of MTHFR 677 TT genotype and T allele was significantly higher and was found to be linked with a higher risk in LGA than in the AGA group.</p><p><strong>Conclusions: </strong>The MTHFR 677 C > T gene polymorphism can be used as a genetic marker in Turkish LGA newborns, but not in SGA.</p>\",\"PeriodicalId\":50452,\"journal\":{\"name\":\"Fetal and Pediatric Pathology\",\"volume\":\" \",\"pages\":\"234-245\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Fetal and Pediatric Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/15513815.2024.2352755\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/14 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fetal and Pediatric Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/15513815.2024.2352755","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/14 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
研究背景本研究旨在调查足月儿中小于胎龄(SGA)、适于胎龄(AGA)和大于胎龄(LGA)的亚甲基四氢叶酸还原酶(MTHFR)677 C > T基因多态性:研究对象包括 165 名 SGA、LGA 和 AGA 新生儿。从外周血中分离出基因组 DNA。利用 PCR-RFLP 对样本进行 MTHFR 677 C > T 基因多态性的基因分型:结果:AGA、SGA 和 LGA 的基因型及其等位基因分布之间存在明显的统计学差异。携带 TT 基因型的新生儿出生体重高于携带 CC 和 CT 基因型的新生儿。与AGA组相比,MTHFR 677 TT基因型和T等位基因的频率明显较高,且与更高的LGA风险相关:结论:MTHFR 677 C > T 基因多态性可用作土耳其 LGA 新生儿的遗传标记,但不适用于 SGA 新生儿。
MTHFR 677 C > T Gene Polymorphism is Associated with Large for Gestational Age Infants.
Background: The aim of this study was to investigate the methylenetetrahydrofolate reductase (MTHFR) 677 C > T gene polymorphism in term infants born small (SGA), appropriate (AGA), and large for gestational age (LGA).
Methods: The study comprised 165 newborns with SGA, LGA and AGA. Genomic DNA was isolated from the peripheral blood. Samples were genotyped for MTHFR 677 C > T gene polymorphisms using PCR-RFLP.
Results: There was a statistically significant difference between the genotype and their allelic distribution of AGA, SGA, and LGA. The newborns carrying the TT genotype had higher birth weight than those carrying the CC and CT genotypes. The frequency of MTHFR 677 TT genotype and T allele was significantly higher and was found to be linked with a higher risk in LGA than in the AGA group.
Conclusions: The MTHFR 677 C > T gene polymorphism can be used as a genetic marker in Turkish LGA newborns, but not in SGA.
期刊介绍:
Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports.
The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.