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巴西伯南布哥州低出生体重儿童中H19/RsaI多态性的调查。

Investigation of H19/RsaI Polymorphism in Children With Low Birth Weight in Pernambuco, Brazil.

作者信息

Maia Paula, Souza Paulo, Angelo Hildson Dornelas, Santos Igor, Martins Danyelly, Lima Filho Jose, Maia Maria Mascena

机构信息

Federal University of Vale do Sao Francisco, Petrolina, Brazil ; Dom Malan Hospital, Petrolina- Pernambuco, Brazil.

Department of Biology, Federal Rural University of Pernambuco, Recife-Pernambuco, Brazil.

出版信息

Iran J Pediatr. 2015 Apr;25(2):e461. doi: 10.5812/ijp.461. Epub 2015 Apr 18.

Abstract

BACKGROUND

H19 is a strong candidate gene for influencing birth weight variation and is exclusively imprinted maternally. In an attempt to understand the relationship of this gene polymorphism with low birth weight children, we investigated association of H19/RsaI polymorphism with low birth weight and normal birth weight in children and their mothers.

OBJECTIVES

The aim of our study was to establish the association between H19 gene polymorphism and LW in children born in Pernambuco, state of Brazil.

PATIENTS AND METHODS

It were selected 89 children, 40 low birth weight (LW) and 49 normal birth weight (NW) and 71 mothers (40 mothers of newborns NW and 31 mothers of newborns LW) attended at Dom Malan Hospital, Petrolina, Pernambuco - Brazil. Peripheral blood samples were collected from patients and genomic DNA was extracted and detected by electrophoresis agarose gel, stained by Blue Green Loading Dye. DNA PCR amplification was done using the primers H1 (sense) and H3 (antisense). PCR products were digested with RsaI and electrophoresed on agarose gel stained by ethidium bromide. Statistical analyses were performed using the program BioEstat version 5.0.

RESULTS

The RsaI polymorphism in the H19 gene showed that genotype frequencies did not differ statistically between low birth weight (AA = 12.5%, AB = 45%, BB = 42.5%) and control (AA = 8.6% AB = 36.73%, BB= 55.10% groups) and the allele frequencies were not significantly different (P = 0.2897). We also did not observe any association between maternal H19 allele polymorphism and low birth weight newborns (P =0.7799) or normal birth weight children (P = 0.8976).

CONCLUSIONS

The small size of sample may be the explanation for these results; future studies with more patients are needed to confirm the effect of H19/RsaI polymorphism on birth weight of LW newborns.

摘要

背景

H19是影响出生体重变异的一个强有力的候选基因,且仅由母体印记。为了了解该基因多态性与低出生体重儿童的关系,我们调查了H19/RsaI多态性与儿童及其母亲的低出生体重和正常出生体重之间的关联。

目的

我们研究的目的是确定巴西伯南布哥州出生的儿童中H19基因多态性与低出生体重之间的关联。

患者和方法

选取了89名儿童,其中40名低出生体重(LW)和49名正常出生体重(NW),以及71名母亲(40名NW新生儿的母亲和31名LW新生儿的母亲),他们均来自巴西伯南布哥州佩特罗利纳市的多姆·马兰医院。采集患者的外周血样本,提取基因组DNA,并通过琼脂糖凝胶电泳进行检测,用蓝绿色上样染料染色。使用引物H1(正向)和H3(反向)进行DNA PCR扩增。PCR产物用RsaI酶切,然后在溴化乙锭染色的琼脂糖凝胶上进行电泳。使用BioEstat 5.0软件进行统计分析。

结果

H19基因中的RsaI多态性显示,低出生体重组(AA = 12.5%,AB = 45%,BB = 42.5%)和对照组(AA = 8.6%,AB = 36.73%,BB = 55.10%)之间的基因型频率在统计学上没有差异,等位基因频率也没有显著差异(P = 0.2897)。我们也没有观察到母亲的H19等位基因多态性与低出生体重新生儿(P = 0.7799)或正常出生体重儿童(P = 0.8976)之间存在任何关联。

结论

样本量小可能是这些结果的原因;未来需要对更多患者进行研究,以证实H19/RsaI多态性对低出生体重新生儿出生体重的影响。

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本文引用的文献

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IGF2/ApaI polymorphism associated with birth weight in children of the region of Petrolina-PE, Brazil.
J Matern Fetal Neonatal Med. 2013 Feb;26(3):316-7. doi: 10.3109/14767058.2012.733769. Epub 2012 Oct 18.
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Tumour-suppressor activity of H19 RNA.H19 RNA的肿瘤抑制活性。
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