Document Detail

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
MedLine Citation:
PMID:  9832036     Owner:  NLM     Status:  MEDLINE    
X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. Affected subjects, who are males, suffer from infantile onset of epilepsy and hypocalcaemia, which appears to be the result of an isolated congenital defect of parathyroid gland development; females are not affected and are normocalcaemic. The gene causing HPT has been previously mapped to a 7 cM interval, flanked centromerically by F9 and telomerically by DXS98, in Xq26-q27, and an analysis of mitochondrial DNA has established a common ancestry for these two kindreds. In order to define further the map location of HPT and thereby facilitate its isolation, we have undertaken linkage studies using polymorphic loci whose order has been established as Xcen - DXS1001 - DXS294 - DXS102 - F9 - DXS1232 - DXS984 - CDR1 - DXS105 - DXS1205 - DXS1227 - DXS98 - DXS52 - Xqter, within this region. Our results established linkage (lod score > 3) between HPT and eight of these 12 loci and indicated that the most likely location of HPT was within a 1.5 Mb interval flanked centromerically by F9 and telomerically by DXS984. Thus, the results of this study have helped to refine the map location of HPT, and this will facilitate the identification of this putative developmental gene and its role in the embryological formation of the parathyroids.
D Trump; P H Dixon; S Mumm; C Wooding; K E Davies; D Schlessinger; M P Whyte; R V Thakker
Related Documents :
19180646 - Neural tube defects in australia: trends in encephaloceles and other neural tube defect...
19427676 - Risk of limb birth defects and mother's home proximity to cornfields.
15553556 - Wisconsin birth defects registry collecting data.
16157146 - Increased incidence of cardiac anomalies in pregnancies complicated by gastroschisis.
871216 - Respiratory function after repair of congenital diaphragmatic hernia.
2605126 - Red cell glycolytic intermediates in normal, anaemic and transfused human fetuses.
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of medical genetics     Volume:  35     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1998 Nov 
Date Detail:
Created Date:  1999-02-04     Completed Date:  1999-02-04     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  905-9     Citation Subset:  IM    
MRC Molecular Endocrinology Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosome Mapping
Genes, Recessive*
Genetic Markers
Hypoparathyroidism / genetics*
Linkage (Genetics)
X Chromosome*
Grant Support
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mor...
Next Document:  Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with S...