Pianese L, Cocozza S, Campanella G, Castaldo I, Cavalcanti F, De Michele G, Filla A, Monticelli A, Munaro M, Redolfi E
Dipartimento di Biologia e Patologia Cellulare e Molecolare CEOS, CNR Università degli Studi di Napoli, Italy.
J Med Genet. 1994 Feb;31(2):133-5. doi: 10.1136/jmg.31.2.133.
We used two recently described genetic markers in the region of the Friedreich's ataxia locus to study 33 affected pedigrees from central-southern regions of Italy. These markers are predicted, by physical mapping, to be localised more closely to the Friedreich's ataxia locus than other previously described markers. No recombination was found between these markers and the disease locus. Strong linkage disequilibrium is present between the compound haplotype and the disease locus. Since this population was also previously studied by using three other more distal genetic markers, a total of five markers has been used to identify the extended haplotype. Homozygosity in consanguineous pedigrees was also studied. Extended haplotype analysis and homozygosity studies suggest the presence of few common disease causing mutations in our population.
我们使用了弗里德赖希共济失调基因座区域最近描述的两个遗传标记，来研究来自意大利中南部地区的33个患病家系。通过物理图谱预测，这些标记比其他先前描述的标记更靠近弗里德赖希共济失调基因座定位。在这些标记和疾病基因座之间未发现重组。复合单倍型与疾病基因座之间存在强连锁不平衡。由于此前也使用另外三个更远端的遗传标记对该人群进行过研究，因此总共使用了五个标记来确定扩展单倍型。还对近亲家系中的纯合性进行了研究。扩展单倍型分析和纯合性研究表明，我们的人群中存在少数常见的致病突变。
