Munro C S, Mastana S S, Papiha S S
University Department of Dermatology, University of Newcastle upon Tyne, UK.
Ann Genet. 1992;35(3):157-60.
The authors have carried out genetic linkage studies in 57 subjects from two large kindreds of Darier's disease, using a range of serological and biochemical polymorphisms of known chromosomal location. In these kindreds, about 7% of the genome has been excluded for close linkage to the Darier's disease gene. However, one family showed positive lod scores for linkage with the Duffy blood locus (1p13); lod scores were negative in the other family, but in the combined families the total score for this marker was still positive and does not completely exclude linkage.
作者对来自两个大的毛囊角化病家系的57名受试者进行了基因连锁研究,采用了一系列已知染色体定位的血清学和生化多态性标记。在这些家系中,约7%的基因组已被排除与毛囊角化病基因紧密连锁。然而,一个家系显示与达菲血型位点(1p13)连锁的对数优势分数为阳性;另一个家系的对数优势分数为阴性,但在合并的家系中,该标记的总分仍为阳性,并未完全排除连锁关系。