Borský M, Pekarík V, Tvrdíková M, Kozák L
Výzkumný ústav zdraví dítĕte, Brno.
Cas Lek Cesk. 1999 Oct 20;138(18):557-9.
Friedreich's ataxia is an autosomal recessive, neurodegenerative disease with a prevalence of 1-2: 100,000. Ninety five % of cases are caused by Friedreich's ataxia expansion of GAA triplet repeat in the first intron of the X25 gene. The gene is mapped on chromosome 9q. The objective of the investigation was to introduce simple and reliable DNA diagnosis helping to specify of spinocerebellare ataxias.
Our diagnosis is based on the differentiation of normal and mutant alleles of gene X25 with PCR and electrophoresis on agarose gel. Size of PCR product of normal allele is in our case 521-614 bp. It is responding to 7-38 GAA triplets. Size of mutant alleles with 200-1200 GAA triplets is as 4100 bp. After the method was introduced, we analysed 12 probands. Four of them suffered from Friedreich's ataxia.
We introduced a fast, non-radioactive, reliable DNA diagnostic method. The contribution of this method is defection of carriers and we can screen of families with the risk of Friedreich's ataxia.
弗里德赖希共济失调是一种常染色体隐性神经退行性疾病，患病率为1 - 2：100,000。95%的病例是由X25基因第一内含子中GAA三联体重复序列的弗里德赖希共济失调扩增引起的。该基因定位于9号染色体q臂。本研究的目的是引入简单可靠的DNA诊断方法，以帮助明确脊髓小脑共济失调。
我们的诊断基于通过聚合酶链反应（PCR）和琼脂糖凝胶电泳对X25基因的正常和突变等位基因进行区分。在我们的研究中，正常等位基因的PCR产物大小为521 - 614碱基对。它对应于7 - 38个GAA三联体。具有200 - 1200个GAA三联体的突变等位基因大小为4100碱基对。引入该方法后，我们分析了12名先证者。其中4人患有弗里德赖希共济失调。
我们引入了一种快速、非放射性、可靠的DNA诊断方法。该方法的作用是检测携带者，并且我们可以对有弗里德赖希共济失调风险的家庭进行筛查。
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