Vabres P, Lacombe D, Rabinowitz L G, Aubert G, Anderson C E, Taieb A, Bonafé J L, Hors-Cayla M C
Research Unit INSERM U 393, Hôpital Necker Enfants-Malades, Paris, France.
J Invest Dermatol. 1995 Jul;105(1):87-91. doi: 10.1111/1523-1747.ep12313359.
Bazex-Dupré-Christol syndrome is an inherited condition with skin cancer predisposition characterized by follicular atrophoderma, hypotrichosis, and early onset of multiple basal cell carcinomas. Previous reports suggested an X-linked mode of inheritance. We therefore performed linkage analysis with microsatellite markers of the X chromosome in three families. We obtained evidence for X-linkage and regional assignment to Xq24-q27 of this syndrome (maximal lod score = 5.26 with a recombination fraction of 0% at the DXS1192 locus). This represents a first step towards the identification of a gene involved in hair follicle development and skin tumor formation.
巴泽克斯-迪普雷-克里斯托尔综合征是一种具有皮肤癌易感性的遗传性疾病，其特征为毛囊性皮肤萎缩、毛发稀少以及多发基底细胞癌的早发。先前的报告提示其为X连锁遗传模式。因此，我们对三个家系进行了X染色体微卫星标记的连锁分析。我们获得了该综合征X连锁及定位至Xq24-q27区域的证据（在DXS1192位点，最大对数优势得分为5.26，重组率为0%）。这是朝着鉴定参与毛囊发育和皮肤肿瘤形成的基因迈出的第一步。
