典型假性软骨发育不全与19号染色体的连锁关系。

Linkage of typical pseudoachondroplasia to chromosome 19.

作者信息

Hecht J T, Francomano C A, Briggs M D, Deere M, Conner B, Horton W A, Warman M, Cohn D H, Blanton S H

机构信息

Department of Pediatrics, University of Texas Medical School, Houston 77225.

出版信息

Genomics. 1993 Dec;18(3):661-6. doi: 10.1016/s0888-7543(05)80370-2.

DOI:10.1016/s0888-7543(05)80370-2

PMID:8307577

Abstract

Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset osteoarthritis. Previous linkage studies have excluded linkage to cartilage and noncartilagenous extracellular matrix candidate genes. Here, we report mapping the pseudoachondroplasia gene to chromosome 19. Maximum lod scores of 4.70, 4.15, and 4.86 at theta = 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/D19S215)-++ +D19S222-D19S49.

摘要

假性软骨发育不全（PSACH）是一种常染色体显性侏儒症，与身材比例失调、明显的关节畸形和早发性骨关节炎相关。先前的连锁研究已排除与软骨及非软骨细胞外基质候选基因的连锁关系。在此，我们报告将假性软骨发育不全基因定位到19号染色体。在θ=0.00时，D19S212、D19S215和D19S49的最大对数优势分数分别为4.70、4.15和4.86。多点分析显示以下顺序：D19S253-D19S199-（D19S212/PSACH/D19S215）-++ +D19S222-D19S49。