Preliminary Localization of a Gene for Autosomal Dominant Hypoparathyroidism to Chromosome 3ql3

David N Finegold, Marlene M Armitage, Mae Galiani, Tara C Matise, M R Pandian, Yvette M Perry, Ranjan Deka, Robert E Ferrell
1994 Pediatric Research  
A large family in which hypoparathyroidism was observed to segregate as an autosomal dominant trait in three generations was identilied. Mutation in the FTH gene was excluded by linkage and single-stranded conformational analysis. The hypocalcemic phenotype in this family was mapped by linkage analysis using short, tandem-repeat polymorphisms to the region of chromosome 3q13. A maximum lod score of 2.71 at O = 0.0 was observed with marker D3S1303. Positive lod scores were observed at O = 0.0
more » ... h markers flanking D3S1303. Multipoint linkage analysis gave a lod score of 2.71 for the region flanking D3S1303. Simulation using the computer program SLINK showed that a lod score of 2.71 at O = 0.0 was
doi:10.1203/00006450-199409000-00024 pmid:7808841 fatcat:dnstesnbyjd3lmhbh2c4uubjqy