意大利人群中通过DNA多态性进行β地中海贫血产前诊断的可行性。

Feasibility of prenatal diagnosis of beta thalassaemia by DNA polymorphisms in an Italian population.

作者信息

Wainscoat J S, Work S, Sampietro M, Cappellini M D, Fiorelli G, Terzoli S, Weatherall D J

出版信息

Br J Haematol. 1986 Mar;62(3):495-500. doi: 10.1111/j.1365-2141.1986.tb02961.x.

DOI:10.1111/j.1365-2141.1986.tb02961.x

Abstract

A feasibility study of prenatal diagnosis of beta thalassaemia in a northern Italian population has been carried out. Twenty-five families have been studied, each consisting of two parents and a homozygous beta thalassaemia child, thus enabling linkage analysis of restriction fragment length polymorphisms (RFLPs) to the normal and the thalassaemic chromosomes. Using seven standard RFLPs, 19/25 families could be offered prenatal diagnosis; inclusion of the recently described Ava II psi beta polymorphism increased this figure to 23/25 (92%) of the families.

摘要

在意大利北部人群中开展了一项β地中海贫血产前诊断的可行性研究。研究了25个家庭，每个家庭由父母双方和一个纯合子β地中海贫血患儿组成，从而能够对正常染色体和地中海贫血染色体进行限制性片段长度多态性（RFLP）连锁分析。使用7种标准RFLP，可为19/25的家庭提供产前诊断；纳入最近描述的Ava II psi β多态性后，这一数字增加到23/25（92%）的家庭。