Journal article
Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a 1-cM Interval on Chromosome 1q42-43
American journal of human genetics, Vol.63(1), pp.163-169
1998
DOI: 10.1086/301915
PMCID: PMC1377236
PMID: 9634513
Abstract
The syndrome of hypoparathyroidism associated with growth retardation, developmental delay, and dysmorphism (HRD) is a newly described, autosomal recessive, congenital disorder with severe, often fatal consequences. Since the syndrome is very rare, with all parents of affected individuals being consanguineous, it is presumed to be caused by homozygous inheritance of a single recessive mutation from a common ancestor. To localize the HRD gene, we performed a genomewide screen using DNA pooling and homozygosity mapping for apparently unlinked kindreds. Analysis of a panel of 359 highly polymorphic markers revealed linkage to D1S235. The maximum LOD score obtained was 4.11 at a recombination fraction of 0. Analysis of three additional markers—GGAA6F06, D1S2678, and D1S179—in a 2-cM interval around D1S235 resulted in LOD scores >3. Analysis of additional chromosome 1 markers revealed evidence of genetic linkage disequilibrium and place the HRD locus within an ∼1-cM interval defined by D1S1540 and D1S2678 on chromosome 1q42-43.
Details
- Title: Subtitle
- Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a 1-cM Interval on Chromosome 1q42-43
- Creators
- Ruti Parvari - Genetics Institute andEli Hershkovitz - Pediatric Department, Soroka Medical Center and the Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, IsraelAdam Kanis - Department of Pediatrics, Division of Medical Genetics, University of Iowa, Iowa City; andRafael Gorodischer - Pediatric Department, Soroka Medical Center and the Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, IsraelShlomit Shalitin - Institute of Pediatric Endocrinology, Schneider Children's Medical Center of Israel, Petah Tikva, IsraelVal C Sheffield - Department of Pediatrics, Division of Medical Genetics, University of Iowa, Iowa City; andRivka Carmi - Genetics Institute and
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.63(1), pp.163-169
- Publisher
- Elsevier Inc
- DOI
- 10.1086/301915
- PMID
- 9634513
- PMCID
- PMC1377236
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 1998
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984065386802771
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