家族性膨胀性骨溶解与18号染色体q臂的基因连锁

Genetic linkage of familial expansile osteolysis to chromosome 18q.

作者信息

Hughes A E, Shearman A M, Weber J L, Barr R J, Wallace R G, Osterberg P H, Nevin N C, Mollan R A

机构信息

Department of Medical Genetics, Queen's University of Belfast, UK.

出版信息

Hum Mol Genet. 1994 Feb;3(2):359-61. doi: 10.1093/hmg/3.2.359.

DOI:10.1093/hmg/3.2.359

PMID:7911698

Abstract

Familial expansile osteolysis is a rare bone dysplasia which is transmitted as an autosomal dominant trait in a large kindred in Northern Ireland. The gene which causes the disease shows tight linkage with several polymorphic markers on chromosome 18q with a maximum lod score of 11.53 at a recombination fraction of 0.00 with D18S64. The gene is flanked by D18S35 and D18S61 and is located at chromosome 18q21.1-q22. Mapping a new locus for a gene involved in regulation of bone metabolism may also have implications in the study of Paget's disease of bone which is a common related bone dysplasia.

摘要

家族性扩张性骨溶解是一种罕见的骨发育异常疾病，在北爱尔兰的一个大家族中以常染色体显性性状遗传。导致该疾病的基因与18号染色体q臂上的几个多态性标记紧密连锁，在与D18S64的重组率为0.00时，最大对数优势得分为11.53。该基因位于D18S35和D18S61之间，定位于18号染色体q21.1 - q22。定位参与骨代谢调节的基因的新位点可能对骨Paget病的研究也有意义，骨Paget病是一种常见的相关骨发育异常疾病。