位于威尔逊氏病基因和视网膜母细胞瘤基因区域的13号染色体长臂部分连锁图谱。

Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes.

作者信息

Haines J L, Ozelius L, St George-Hyslop P, Wexler N S, Gusella J F, Conneally P M

机构信息

Department of Medical Genetics, Indiana University Medical Center, Indianapolis.

出版信息

Genet Epidemiol. 1988;5(6):375-80. doi: 10.1002/gepi.1370050602.

DOI:10.1002/gepi.1370050602

PMID:2905314

Abstract

Genetic linkage maps are useful tools for defining the location of disease genes. Previously published maps of human chromosome 13 have been incomplete and have had ambiguities of order in the vicinity of the Wilson disease (WND) and retinoblastoma (RB1) genes. We have defined a six-locus map of this region using a large reference pedigree from Venezuela. Our map provides landmarks which will aid in the localization of WND, in determining the extent of deletions in retinoblastoma, and in the mapping of other marker loci.

摘要

遗传连锁图谱是用于确定疾病基因位置的有用工具。先前发表的人类13号染色体图谱并不完整，在威尔逊氏病（WND）和视网膜母细胞瘤（RB1）基因附近存在顺序不明确的情况。我们利用来自委内瑞拉的一个大型参考家系确定了该区域的一个六位点图谱。我们的图谱提供了一些界标，这将有助于WND的定位、确定视网膜母细胞瘤中缺失的范围以及其他标记位点的定位。