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胰岛素样生长因子 1 基因(CA)n 重复和胰岛素基因的可变串联重复在巴西小于胎龄出生儿中的研究。

Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age.

机构信息

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormonios e Genetica Molecular LIM/42, São Paulo/SP, Brazil.

出版信息

Clinics (Sao Paulo). 2013 Jun;68(6):785-91. doi: 10.6061/clinics/2013(06)10.

Abstract

OBJECTIVE

To investigate the influence of (CA)n repeats in the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene on birth size in children who are small or adequate-sized for gestational age and to correlate these polymorphisms with serum insulin-like growth factor 1 levels and insulin sensitivity in children who are small for gestational age, with and without catch-up growth.

PATIENTS AND METHODS

We evaluated 439 infants: 297 that were adequate-sized for gestational age and 142 that were small for gestational age (66 with and 76 without catch-up). The number of (CA)n repeat in the insulin-like growth factor 1 gene and a variable number of tandem repeats in the insulin gene were analyzed using GENESCAN software and polymerase chain reaction followed by enzymatic digestion, respectively. Clinical and laboratory data were obtained from all patients.

RESULTS

The height, body mass index, paternal height, target height and insulin-like growth factor 1 serum levels were higher in children who were small for gestational age with catch-up. There was no difference in the allelic and genotypic distributions of both polymorphisms between the adequate-sized and small infants or among small infants with and without catch-up. Similarly, the polymorphisms were not associated with clinical or laboratory variables.

CONCLUSION

Polymorphisms of the (CA)n repeats of the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene, separately or in combination, did not influence pre- or postnatal growth, insulin-like growth factor 1 serum levels or insulin resistance.

摘要

目的

研究胰岛素样生长因子 1 基因中的(CA)n 重复序列和胰岛素基因的可变串联重复数对胎龄正常大小和小于胎龄的儿童出生体重的影响,并将这些多态性与胰岛素样生长因子 1 血清水平和胰岛素敏感性相关联在胎龄较小的儿童中,无论是否有追赶性生长。

方法

我们评估了 439 名婴儿:297 名胎龄正常大小,142 名胎龄较小(66 名有追赶性生长,76 名无追赶性生长)。胰岛素样生长因子 1 基因中的(CA)n 重复数和胰岛素基因中的可变串联重复数分别采用 GENESCAN 软件和聚合酶链反应(PCR)及酶消化进行分析。所有患者均获得临床和实验室数据。

结果

有追赶性生长的胎龄较小的儿童身高、体重指数、父亲身高、靶身高和胰岛素样生长因子 1 血清水平较高。在胎龄正常大小和较小的婴儿之间,或在有和没有追赶性生长的较小婴儿之间,两种多态性的等位基因和基因型分布均无差异。同样,多态性与临床或实验室变量无关。

结论

胰岛素样生长因子 1 基因中的(CA)n 重复序列和胰岛素基因的可变串联重复数的多态性,单独或联合,均不影响产前或产后生长、胰岛素样生长因子 1 血清水平或胰岛素抵抗。

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Small for gestational age: short stature and beyond.小于胎龄儿:身材矮小及其他情况。
Endocr Rev. 2007 Apr;28(2):219-51. doi: 10.1210/er.2006-0039. Epub 2007 Feb 23.

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