α-1-抗胰蛋白酶基因侧翼序列中的独立突变与慢性阻塞性气道疾病相关。

Independent mutations in the flanking sequence of the alpha-1-antitrypsin gene are associated with chronic obstructive airways disease.

作者信息

Kalsheker N A, Watkins G L, Hill S, Morgan K, Stockley R A, Fick R B

机构信息

Department of Medical Biochemistry, University of Wales College of Medicine, Royal Infirmary, Cardiff, U.K.

出版信息

Dis Markers. 1990 May-Jun;8(3):151-7.

PMID:1980238

Abstract

Two restriction fragment length polymorphisms (RFLPs) of the flanking sequence of the alpha 1-antitrypsin (AAT) gene, detected with the restriction enzymes HindIII and TaqI, have been reported to occur more commonly in patients with chronic obstructive airways disease (COAD). Their frequencies were investigated in 20 Caucasian families with a family history of COAD and in 140 unrelated COAD patients none of whom had AAT deficiency. The HindIII polymorphism was present in six index cases of 20 families (p = 0.0015) and 14 of the unrelated patients (p = 0.061) compared with one of 60 healthy unrelated controls. The TaqI polymorphism was present in five of 101 healthy unrelated controls and in three index cases of the 20 families. In the unrelated patient group 28 of 140 had the polymorphism (chi 2 = 10.01, p = 0.0016) and corresponds to a mean log odds ratio of 1.56 (95 per cent confidence limits of 0.58-2.56). The polymorphisms occurred independently of each other and were not associated with AAT deficiency in the basal state.

摘要

据报道，用限制性内切酶HindIII和TaqI检测到的α1-抗胰蛋白酶（AAT）基因侧翼序列的两种限制性片段长度多态性（RFLP）在慢性阻塞性气道疾病（COAD）患者中更常见。对20个有COAD家族病史的白种人家庭以及140名无AAT缺乏症的非相关COAD患者的RFLP频率进行了研究。与60名健康非相关对照中的1名相比，HindIII多态性存在于20个家庭的6名索引病例中（p = 0.0015）以及14名非相关患者中（p = 0.061）。TaqI多态性存在于101名健康非相关对照中的5名以及20个家庭的3名索引病例中。在非相关患者组中，140名中有28名具有该多态性（χ2 = 10.01，p = 0.0016），平均对数优势比为1.56（95%置信区间为0.58 - 2.56）。这些多态性相互独立出现，并且在基础状态下与AAT缺乏症无关。