• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

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.

DOI:10.23736/S1121-421X.16.02355-2
PMID:28673071
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。

相似文献

1
Lactase non-persistent genotype distribution in Italy.意大利乳糖酶不持续性基因型分布
Minerva Gastroenterol Dietol. 2017 Sep;63(3):264-269. doi: 10.23736/S1121-421X.16.02355-2.
2
Genetic testing for adult-type hypolactasia in Italian families.意大利家庭中成人型乳糖不耐受的基因检测。
Clin Chem Lab Med. 2008;46(7):980-4. doi: 10.1515/CCLM.2008.189.
3
Frequency of LCT-13910C/T and LCT-22018G/A single nucleotide polymorphisms associated with adult-type hypolactasia/lactase persistence among Israelis of different ethnic groups.不同族群以色列成年人乳糖酶缺乏症/乳糖酶持续存在相关的 LCT-13910C/T 和 LCT-22018G/A 单核苷酸多态性的频率。
Gene. 2013 Apr 25;519(1):67-70. doi: 10.1016/j.gene.2013.01.049. Epub 2013 Feb 13.
4
Genetic testing improves the diagnosis of adult type hypolactasia in the Mediterranean population of Sardinia.基因检测改善了撒丁岛地中海人群中成人型低乳糖酶血症的诊断。
Eur J Clin Nutr. 2007 Oct;61(10):1220-5. doi: 10.1038/sj.ejcn.1602638. Epub 2007 Feb 21.
5
Genotyping of the lactase-phlorizin hydrolase c/t-13910 polymorphism by means of a new rapid denaturing high-performance liquid chromatography-based assay in healthy subjects and colorectal cancer patients.采用基于新型快速变性高效液相色谱法的检测方法,对健康受试者和结直肠癌患者的乳糖酶-根皮苷水解酶c/t-13910多态性进行基因分型。
J Biomol Screen. 2007 Aug;12(5):733-9. doi: 10.1177/1087057107301328. Epub 2007 May 3.
6
Frequency of LCT -13910C>T single nucleotide polymorphism associated with adult-type hypolactasia/lactase persistence among Brazilians of different ethnic groups.不同种族巴西人中与成人型低乳糖血症/乳糖酶持久性相关的LCT -13910C>T单核苷酸多态性的频率
Nutr J. 2009 Oct 2;8:46. doi: 10.1186/1475-2891-8-46.
7
Prevalence of adult-type hypolactasia as diagnosed with genetic and lactose hydrogen breath tests in Hungarians.匈牙利人通过基因检测和乳糖氢呼气试验诊断出的成人型低乳糖酶血症患病率。
Eur J Clin Nutr. 2009 Jul;63(7):909-12. doi: 10.1038/ejcn.2008.74. Epub 2009 Jan 21.
8
Very low frequency of the lactase persistence allele in the Armenian population.亚美尼亚人群中乳糖酶持久性等位基因的频率极低。
Ann Hum Biol. 2022 Sep;49(5-6):260-262. doi: 10.1080/03014460.2022.2126887. Epub 2022 Nov 2.
9
Effect of C/T -13910 cis-acting regulatory variant on expression and activity of lactase in Indian children and its implication for early genetic screening of adult-type hypolactasia.C/T-13910 顺式作用调控变异对印度儿童乳糖酶表达和活性的影响及其对成人型低乳糖酶症早期遗传筛查的意义。
Clin Chim Acta. 2011 Oct 9;412(21-22):1924-30. doi: 10.1016/j.cca.2011.06.032. Epub 2011 Jul 6.
10
Comparison of Quick Lactose Intolerance Test in duodenal biopsies of dyspeptic patients with single nucleotide polymorphism LCT-13910C>T associated with primary hypolactasia/lactase-persistence.消化不良患者十二指肠活检中快速乳糖不耐受试验与原发性乳糖酶缺乏/乳糖酶持续存在相关的单核苷酸多态性LCT-13910C>T的比较
Acta Cir Bras. 2013;28 Suppl 1:77-82. doi: 10.1590/s0102-86502013001300015.

引用本文的文献

1
Development of a novel SNP assay to detect lactase persistence associated genetic variants.开发一种新型 SNP 检测方法,用于检测与乳糖酶持续存在相关的遗传变异。
Mol Biol Rep. 2021 Nov;48(11):7087-7093. doi: 10.1007/s11033-021-06698-y. Epub 2021 Sep 13.
2
Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies.乳糖不耐受的遗传学:表型和基因型频率的最新综述和在线互动世界地图。
Nutrients. 2020 Sep 3;12(9):2689. doi: 10.3390/nu12092689.
3
Congruency of Genetic Predisposition to Lactase Persistence and Lactose Breath Test.
乳糖持续存在和乳糖呼气试验的遗传易感性一致性。
Nutrients. 2019 Jun 20;11(6):1383. doi: 10.3390/nu11061383.
4
Retrospective analysis of a lactose breath test in a gastrointestinal symptomatic population of Northeast Italy: use of (H+2CH) versus H threshold.意大利东北部有胃肠道症状人群乳糖呼气试验的回顾性分析:(H + 2CH)与H阈值的应用
Clin Exp Gastroenterol. 2018 Jun 18;11:243-248. doi: 10.2147/CEG.S163962. eCollection 2018.