Pistorius M A, Planchon B, Schott J J, Lemarec H
Service de Médecine Interne et Vasculaire, CHU Hôtel-Dieu, Place Alexis Ricordeau, 44000 Nantes.
J Mal Vasc. 2006 Feb;31(1):10-5. doi: 10.1016/s0398-0499(06)76512-x.
The pathophysiology of primary Raynaud's phenomenon (Raynaud's disease) remains uncertain but the transmission of this primary microcirculatory dysregulation seems strongly influenced by genetic factors. For a long time, physicians have found that the hereditary factor plays an important role in the genesis of Raynaud's disease. Familial analysis and twin studies have confirmed the role of an hereditary factor. It seems heterogeneous but pedigree analysis indicates the possibility of an autosomal dominant transmission influenced by sex, in some families, allowing an approach called "reverse genetic" based on linkage analysis. Such an approach has focused on few loci but sequencing of candidate genes for genetic mutations remains negative. Given the supposed heterogeneity of the genetic transmission of Raynaud's disease, diversification of strategies in molecular genetics is suitable with reference to techniques applied to multifactorial heredity.
原发性雷诺现象(雷诺病)的病理生理学仍不明确,但这种原发性微循环调节障碍的传递似乎受到遗传因素的强烈影响。长期以来,医生们发现遗传因素在雷诺病的发生中起着重要作用。家族分析和双胞胎研究证实了遗传因素的作用。它似乎具有异质性,但系谱分析表明,在某些家族中,存在受性别影响的常染色体显性传递的可能性,这使得基于连锁分析的“反向遗传学”方法成为可能。这种方法仅聚焦于少数基因座,但对候选基因突变进行测序的结果仍为阴性。鉴于雷诺病遗传传递存在异质性的推测,参考应用于多因素遗传的技术,分子遗传学策略的多样化是合适的。