伊朗阿塞拜疆土耳其族人群中甲型血友病携带者的检测：HindIII和BclI标记物的效用

Detection of hemophilia a carriers in Azeri Turkish population of Iran: usefulness of HindIII and BclI markers.

作者信息

Moharrami Tamouchin, Derakhshan Sima Mansoori, Pourfeizi Abbas Ali H, Khaniani Mahmoud Shekari

机构信息

Department of Medical genetics, Tabriz University of Medical Sciences, Tabriz, Iran Students' research committee, Tabriz University of Medical Sciences, Tabriz, Iran.

Department of Medical genetics, Tabriz University of Medical Sciences, Tabriz, Iran.

出版信息

Clin Appl Thromb Hemost. 2015 Nov;21(8):755-9. doi: 10.1177/1076029614526638. Epub 2014 Mar 25.

DOI:10.1177/1076029614526638

PMID:24671757

Abstract

Hemophilia A (HA) is an inherited X-linked coagulation disorder caused by the deficiency of factor VIII (FVIII). Linkage analysis is a common indirect method for the detection of female carriers in families with HA. In the current study, 173 patients from 30 unrelated families with HA were recruited from the Azeri Turkish population of northwest Iran and analyzed for BclI and HindIII markers by polymerase chain reaction-restriction fragment length polymorphism. We investigated the potential of using these markers for the detection of mutation in carriers through linkage analysis, which would be of tremendous use in prenatal diagnosis. Among the tested women, 47% and 35% were found to be heterozygous for BclI and HindIII polymorphic markers, respectively. The BclI and HindIII markers were informative for the detection of 63% and 17% potential carriers, respectively, demonstrating the effectiveness of the BclI marker for the detection of HA carriers among the Azeri Turkish population.

摘要

甲型血友病（HA）是一种由凝血因子 VIII（FVIII）缺乏引起的遗传性 X 连锁凝血障碍。连锁分析是检测 HA 家族中女性携带者的常用间接方法。在本研究中，从伊朗西北部的阿塞拜疆土耳其人群中招募了来自 30 个无亲缘关系的 HA 家族的 173 名患者，并通过聚合酶链反应-限制性片段长度多态性分析 BclI 和 HindIII 标记。我们通过连锁分析研究了使用这些标记检测携带者突变的潜力，这在产前诊断中将非常有用。在测试的女性中，分别有 47%和 35%被发现为 BclI 和 HindIII 多态性标记的杂合子。BclI 和 HindIII 标记分别对 63%和 17%的潜在携带者检测具有信息性，证明了 BclI 标记在阿塞拜疆土耳其人群中检测 HA 携带者的有效性。