卡姆拉蒂-恩格尔曼病基因座定位于19q13.2的确认及定位到一个3.2厘摩区域的精细定位。

Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region.

作者信息

Vaughn S P, Broussard S, Hall C R, Scott A, Blanton S H, Milunsky J M, Hecht J T

机构信息

University of Texas Houston Medical School, Houston, Texas 77030, USA.

出版信息

Genomics. 2000 May 15;66(1):119-21. doi: 10.1006/geno.2000.6192.

DOI:10.1006/geno.2000.6192

PMID:10843814

Abstract

Camurati-Englemann syndrome (DPD1) is an autosomal dominant condition associated with progressive cortical sclerosis of the diaphyses of all the long bones. Clinical features include abnormal gait, muscle weakness and wasting, and generalized fatigue. The DPD1 gene was recently mapped to a 15.1-cM region on chromosome 19q13.2. We have narrowed the region containing the DPD1 gene to a 3.2-cM region flanked by short tandem repeat markers, D19S881 and D19S718. TGFB1, a candidate gene mapped within this region, was excluded.

摘要

卡穆拉蒂-恩格尔曼综合征（DPD1）是一种常染色体显性疾病，与所有长骨干骺端进行性皮质硬化相关。临床特征包括异常步态、肌肉无力和萎缩以及全身疲劳。DPD1基因最近被定位到19号染色体长臂13.2区一个15.1厘摩的区域。我们已将包含DPD1基因的区域缩小到一个3.2厘摩的区域，该区域两侧为短串联重复序列标记D19S881和D19S718。位于该区域内的候选基因转化生长因子β1（TGFB1）已被排除。