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通过血清遗传学标记对 Darier 病基因进行定位:两个英国大家系的研究结果

Mapping of the Darier's disease gene by serogenetic markers: results in two large British kindreds.

作者信息

Munro C S, Mastana S S, Papiha S S

机构信息

University Department of Dermatology, University of Newcastle upon Tyne, UK.

出版信息

Ann Genet. 1992;35(3):157-60.

PMID:1466564
Abstract

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.

摘要

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。

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