罗马的β地中海贫血突变。拉齐奥地区起源人群中IVSII - 745等位基因的高频率。

Beta-thalassemia mutations in Rome. A high frequency of the IVSII-745 allele in subjects of latium origin.

作者信息

Massa A, Cianciulli P, Cianetti L, Iazzone R, Cenci A, Sorrentino F, Franco G, Pecci G, Papa G, Peschle C

机构信息

Hematology-Oncology Laboratory, Istituto Superiore di Sanità, Rome, Italy.

出版信息

Haematologica. 1994 May-Jun;79(3):256-8.

PMID:7926974

Abstract

We studied the molecular bases of beta-thalassemia in Rome, a city centrally located in Latium, which is a region with a low incidence of beta-carriers. People also come to Rome from other regions for specific or prenatal diagnostic assessment. Only 11 patients (20%) out of 62 characterized beta-thalassemia subjects were of Latium family origin. They presented five mutations with an uncommonly high frequency of the IVSII-745 allele, that was found in homozygosis in 4 unrelated patients from a southeastern area in the province of Frosinone. These data may indicate a founder effect.

摘要

我们研究了罗马β地中海贫血的分子基础，罗马位于拉丁姆地区中心，该地区β基因携带者发病率较低。也有来自其他地区的人前往罗马进行特定或产前诊断评估。在62例已明确特征的β地中海贫血患者中，只有11例（20%）来自拉丁姆地区家族。他们出现了5种突变，IVSII - 745等位基因频率异常高，在弗罗西诺内省东南部地区的4例无关患者中发现该等位基因纯合子。这些数据可能表明存在奠基者效应。