Chibani J, Vidaud M, Duquesnoy P, Ellouze F, Kortas M, Hafsia P, Belhadj O, Rosa J, Goossens M
Nouv Rev Fr Hematol (1978). 1986;28(4):227-9.
In order to perform prenatal diagnosis of beta-thalassemia by DNA analysis in Tunisia, we investigated molecular defects and their frequencies. We have determined which haplotypes are associated with beta zero or beta +-thalassemia phenotypes. Six of the haplotypes described by Orkin were observed among 15 patients homozygous for beta zero (11) or beta +-thalassemia (4). We also investigated the molecular defects. The frameshift mutation in codon 6, characterized by Mst II seems more frequent than the beta 39 non sense mutation indicating that Tunisian patients differ from other Mediterranean patients from Algeria or Italy. Results concerning beta +-thalassemia are too preliminary to draw any conclusion. The study is currently being enlarged with other molecular probes and restriction enzymes.
为了在突尼斯通过DNA分析进行β地中海贫血的产前诊断，我们研究了分子缺陷及其频率。我们确定了哪些单倍型与β0或β+-地中海贫血表型相关。在15例β0（11例）或β+-地中海贫血（4例）纯合患者中观察到了Orkin描述的6种单倍型。我们还研究了分子缺陷。由Mst II鉴定的密码子6移码突变似乎比β39无义突变更常见，这表明突尼斯患者与来自阿尔及利亚或意大利的其他地中海患者不同。关于β+-地中海贫血的结果过于初步，无法得出任何结论。目前正在使用其他分子探针和限制酶扩大这项研究。
