Linkage of autosomal dominant radial drusen (Malattia leventinese) to chromosome 2p16-21
Linkage of autosomal dominant radial drusen (Malattia leventinese) to chromosome 2p16-21
复制标题
DOI：
10.1001/archopht.1996.01100130187014
复制
发表时间：
1996-02-01
影响因子：
--
通讯作者：
Stone, EM
中科院分区：
文献类型：
--
作者：
Heon, E;Piguet, B;Stone, EM
目的：确定常染色体显性遗传的放射状玻璃疣（malattia leventinese）的发病机制中所涉及的基因的染色体定位。患者：86个成员的四个家庭受影响的放射状玻璃疣;一个家庭的美国血统和三个家庭的瑞士origin.Methods：家庭成员进行了临床检查的存在放射状玻璃疣。受影响的患者和潜在的信息配偶的基因分型与短串联重复多态性分布在常染色体基因组。结果：共发现五十六例患者有临床表现，其中12例患者的临床表现与基因型有关。在疾病表型和已知位于2号染色体短臂上的标记之间观察到显著的连锁。观察到的所有四个家庭组合的最大两点lod评分（Z（max））为10.5，并获得标记D2 S378。多点分析得出Z（max）为12，以标记D2 S378为中心。LOD-1的置信区间为8 cM，而所观察到的重组体定义的疾病间隔为14 cM.Conclusions：负责常染色体显性辐射状玻璃疣的基因已被映射到2号染色体的短臂。这是真正分离致病基因的重要一步。此外，该信息可用于评估其他家族性玻璃疣表型，如Doyne黄斑营养不良的可能等位基因关系。
Objective: To identify the chromosomal location of the gene involved in the pathogenesis of autosomal dominant radial drusen (malattia leventinese).Patients: Eighty-six members of four families affected with radial drusen; one family of American origin and three families of Swiss origin.Methods: Family members were clinically examined for the presence of radial drusen. Affected patients and potentially informative spouses were genotyped with short tandem repeat polymorphisms distributed across the autosomal genome. The clinical and genotypic data were subjected to linkage analysis.Results: Fifty-six patients were found to be clinically affected. Significant linkage was observed between the disease phenotype and markers known to lie on the short arm of chromosome 2. The maximum two-point lod score (Z(max)) observed for all four families combined was 10.5 and was obtained with marker D2S378. Multipoint analysis yielded a Z(max) of 12, centered on marker D2S378. The lod-1 confidence interval was 8 cM, while the disease interval defined by observed recombinants was 14 cM.Conclusions: The gene responsible for autosomal dominant radial drusen has been mapped to the short arm of chromosome 2. This is an important step toward actually isolating the disease-causing gene. In addition, this information can be used to evaluate other familial drusen phenotypes such as Doyne's macular dystrophy for a possible allelic relationship.