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意大利乳糖酶不持续性基因型分布

Lactase non-persistent genotype distribution in Italy.

作者信息

Zadro Cristina, Dipresa Savina, Zorzetti Giovanni, Pediroda Annalisa, Menegoni Francesco

机构信息

g&life SpA, Trieste, Italy -

g&life SpA, Trieste, Italy.

出版信息

Minerva Gastroenterol Dietol. 2017 Sep;63(3):264-269. doi: 10.23736/S1121-421X.16.02355-2.

Abstract

BACKGROUND

Adult-type hypolactasia is a frequent condition of lactose malabsorption; in Europe the distribution of adult-type hypolactasia have been shown to display a North-South gradient. Genotyping for LCT-13910 C>T polymorphism has been proposed as a useful diagnostic marker of adult-type hypolactasia. Data concerning lactase non-persistent genotype distribution in Italy are confused and not well characterized. The aim of this study was to determine the prevalence of CC-genotype corresponding to lactase non-persistence in Italian population.

METHODS

We genotyped 1312 adult Italian subjects for LCT-13910 C>T polymorphism by KASPar chemistry (KBioscience Ltd., Hoddesdon, England, UK).

RESULTS

The frequency of the lactase non-persistence genotype of our sample was 62.3% that was higher than the values published for adult hypolactasia in Italy. In our study a frequency of 58.6%, 74.1% and 67.1% was detected in the three main macro-regions of Italy (North, Center, and South), respectively.

CONCLUSIONS

For the first time we analyzed the distribution of the LCT-13910 CC genotype in a big population of Italian subjects. Our data did not validate the presence of a North-South gradient for adult hypolactasia along the Italian peninsula.

摘要

背景

成人型低乳糖酶症是乳糖吸收不良的常见病症;在欧洲,成人型低乳糖酶症的分布呈现出南北梯度。LCT - 13910 C>T多态性基因分型已被提议作为成人型低乳糖酶症的一种有用诊断标志物。关于意大利乳糖酶不持续性基因型分布的数据较为混乱且特征不明确。本研究的目的是确定意大利人群中与乳糖酶不持续性相对应的CC基因型的患病率。

方法

我们采用KASPar化学法(KBioscience有限公司,英国赫德登)对1312名成年意大利受试者的LCT - 13910 C>T多态性进行基因分型。

结果

我们样本中乳糖酶不持续性基因型的频率为62.3%,高于意大利已发表的成人低乳糖酶症相关数值。在我们的研究中,意大利三个主要大区(北部、中部和南部)的频率分别为58.6%、74.1%和67.1%。

结论

我们首次在大量意大利受试者群体中分析了LCT - 13910 CC基因型的分布。我们的数据并未证实意大利半岛上成人低乳糖酶症存在南北梯度。

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