Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14.

ABSTRACT:

Background

Familial isolated hyperparathyroidism (FIHP) is an autosomal dominantly inherited form of primary hyperparathyroidism. Although comprising only about 1% of cases of primary hyperparathyroidism, identification and functional analysis of a causative gene for FIHP is likely to advance our understanding of parathyroid physiology and pathophysiology.

Methods

A genome-wide screen of DNA from seven pedigrees with FIHP was undertaken in order to identify a region of genetic linkage with the disorder.

Results

Multipoint linkage analysis identified a region of suggestive linkage (LOD score 2.68) on chromosome 2. Fine mapping with the addition of three other families revealed significant linkage adjacent to D2S2368 (maximum multipoint LOD score 3.43). Recombination ev

SUBMITTER: Warner JV 

PROVIDER: S-EPMC2563254 | biostudies-literature | 2006 Mar

REPOSITORIES: biostudies-literature