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[1型糖尿病患者突尼斯一级亲属中的易感性标志物]

[Susceptibility markers in Tunisian first-degree relatives of patients with type 1 diabetes].

作者信息

Laadhar L, Gassara A, Mahfoudh N, Ben Hadj hmida Y, Kamoun T, Ben Ayed M, Rekik N, Mahfoudh A, Rebai A, Makni H, Abid M, Hachicha M, Masmoudi H

机构信息

Laboratoire d'immunologie, EPS Habib-Bourguiba, Sfax, Tunisie.

出版信息

Ann Endocrinol (Paris). 2007 Jun;68(2-3):181-5. doi: 10.1016/j.ando.2007.01.021. Epub 2007 May 21.

DOI:10.1016/j.ando.2007.01.021
PMID:17512892
Abstract

To identify the profile of anti-pancreas autoantibodies and elucidate the HLA DRB1, DQB1 polymorphism in Tunisian first-degree relatives of patients with type 1 diabetes, we recruited 96 relatives from 21 families with at least one diabetic child. Islet cell antibodies (ICA) were detected by immunofluorescence on monkey pancreas; glutamate decarboxylase (GADA), IA2 (IA2-A) and insulin (IAA) antibodies were measured by RIA. HLA class II DRB1 and DQB1 alleles were typed by PCR-SSP. ICA, GADA, IA2-A and IAA were found in respectively 11.5, 4.2, 5.2 and 8.3% of relatives. Twenty-two out of 96 had at least one antibody and 20 out of these 22 had a susceptibility allele (DRB103, DRB104, DQB102 or DQB10302) with or without protective allele (DRB111, DRB113, DRB115 or DQB106). All of the 5 relatives having 2 autoantibodies or more carried the DRB104-DQB10302 susceptible haplotype. In conclusion, this observational study confirms in a Tunisian population known epidemiological data and demonstrates the usefulness of follow-up to determine the predictive value of studied markers.

摘要

为了确定抗胰腺自身抗体的特征,并阐明1型糖尿病患者突尼斯一级亲属中HLA DRB1、DQB1基因多态性,我们从21个至少有一个糖尿病儿童的家庭中招募了96名亲属。通过对猴胰腺进行免疫荧光检测胰岛细胞抗体(ICA);采用放射免疫分析法测定谷氨酸脱羧酶(GADA)、IA2(IA2 - A)和胰岛素(IAA)抗体。通过聚合酶链反应 - 序列特异性引物(PCR - SSP)对HLA II类DRB1和DQB1等位基因进行分型。在亲属中,ICA、GADA、IA2 - A和IAA的检出率分别为11.5%、4.2%、5.2%和8.3%。96名亲属中有22名至少有一种抗体,这22名中有20名携带易感等位基因(DRB103、DRB104、DQB102或DQB10302),有或没有保护等位基因(DRB111、DRB113、DRB115或DQB106)。所有5名有两种或更多自身抗体的亲属都携带DRB104 - DQB10302易感单倍型。总之,这项观察性研究在突尼斯人群中证实了已知的流行病学数据,并证明了随访对于确定所研究标志物预测价值的有用性。

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引用本文的文献

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Human Leukocyte Antigen (HLA) and Islet Autoantibodies Are Tools to Characterize Type 1 Diabetes in Arab Countries: Emphasis on Kuwait.人类白细胞抗原 (HLA) 和胰岛自身抗体是阿拉伯国家 1 型糖尿病特征描述的工具:以科威特为例。
Dis Markers. 2019 Nov 20;2019:9786078. doi: 10.1155/2019/9786078. eCollection 2019.
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HLA class II alleles susceptibility markers of type 1 diabetes fail to specify phenotypes of ketosis-prone diabetes in adult Tunisian patients.1型糖尿病的HLA II类等位基因易感性标记物无法明确突尼斯成年患者中酮症倾向型糖尿病的表型。
Exp Diabetes Res. 2011;2011:964160. doi: 10.1155/2011/964160. Epub 2011 Mar 2.