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塞浦路斯的血红蛋白变体

Hemoglobin variants in Cyprus.

作者信息

Kyrri Andreani R, Felekis Xenia, Kalogerou Eleni, Wild Barbara J, Kythreotis Loukas, Phylactides Marios, Kleanthous Marina

机构信息

Thalassaemia Centre, Makarios Hospital, Nicosia, Cyprus.

出版信息

Hemoglobin. 2009;33(2):81-94. doi: 10.1080/03630260902813502.

Abstract

Cyprus, located at the eastern end of the Mediterranean region, has been a place of eastern and western civilizations, and the presence of various hemoglobin (Hb) variants can be considered a testimony to past colonizations of the island. In this study, we report the structural Hb variants identified in the Cypriot population (Greek Cypriots, Maronites, Armenians, and Latinos) during the thalassemia screening of 248,000 subjects carried out at the Thalassaemia Centre, Nicosia, Cyprus, over a period of 26 years. A sample population of 65,668 people was used to determine the frequency and localization of several of the variants identified in Cyprus. The localization of some of the variants in regions where the presence of foreign people was most prevalent provides important clues to the origin of the variants. Twelve structural variants have been identified by DNA sequencing, nine concerning the beta-globin gene and three concerning the alpha-globin gene. The most common beta-globin variants identified were Hb S (0.2%), Hb D-Punjab (0.02%), and Hb Lepore-Washington-Boston (Hb Lepore-WB) (0.03%); the most common alpha-globin variant was Hb Setif (0.1%). The presence of some of these variants is likely to be directly linked to the history of Cyprus, as archeological monuments have been found throughout the island which signify the presence for many years of the Greeks, Syrians, Persians, Arabs, Byzantines, Franks, Venetians, and Turks.

摘要

塞浦路斯位于地中海地区的东端,一直是东西方文明的交汇之地,各种血红蛋白(Hb)变体的存在可被视为该岛过去殖民历史的见证。在本研究中,我们报告了在塞浦路斯尼科西亚地中海贫血中心对248,000名受试者进行的长达26年的地中海贫血筛查期间,在塞浦路斯人群(希族塞人、马龙派、亚美尼亚人和拉丁裔)中发现的结构性Hb变体。使用65,668人的样本群体来确定在塞浦路斯发现的几种变体的频率和定位。一些变体在外国人最为普遍的地区的定位为这些变体的起源提供了重要线索。通过DNA测序鉴定出了12种结构性变体,其中9种与β-珠蛋白基因有关,3种与α-珠蛋白基因有关。鉴定出的最常见的β-珠蛋白变体为Hb S(0.2%)、Hb D-旁遮普(0.02%)和Hb Lepore-华盛顿-波士顿(Hb Lepore-WB)(0.03%);最常见的α-珠蛋白变体为Hb塞蒂夫(0.1%)。这些变体中的一些的存在可能与塞浦路斯的历史直接相关,因为在全岛都发现了考古遗迹,这些遗迹表明希腊人、叙利亚人、波斯人、阿拉伯人、拜占庭人、法兰克人、威尼斯人和土耳其人曾在该岛存在多年。

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