| Characterization of the calcitonin/CGRP gene in Williams syndrome. | |
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MedLine Citation:
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PMID: 1867260 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We have investigated the possibility of mutations in the calcitonin/calcitonin gene related peptide (CGRP) gene in children with Williams syndrome. Involvement of the calcitonin/CGRP gene in Williams syndrome is postulated on the basis that Williams syndrome children often have infantile hypercalcemia and deficient expression of calcitonin, a hormone that lowers serum calcium levels. To test the hypothesis that mutations in the calcitonin/CGRP gene might be responsible for the reduced calcitonin levels, we examined the calcitonin/CGRP gene structure in Williams syndrome children. Analysis of white blood cell DNA by Southern blot hybridizations in 5 individuals did not show any detectable large deletions or rearrangements in the calcitonin/CGRP gene locus. The possibility of small deletions or point mutations within the exon encoding the mature calcitonin hormone is unlikely based on ribonuclease protection assays with patient DNA amplified by the polymerase chain reaction (PCR) technique. These findings suggest that the calcitonin deficiency might be due either to mutations elsewhere in the gene or to defects in the cellular machinery needed for calcitonin synthesis and/or secretion. |
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Authors:
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A F Russo; K Chamany; S W Klemish; T M Hall; J C Murray |
Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 39 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1991 Apr |
Date Detail:
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Created Date: 1991-09-12 Completed Date: 1991-09-12 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 28-33 Citation Subset: IM |
Affiliation:
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Department of Physiology, University of Iowa, Iowa City 52242. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Calcitonin / biosynthesis Calcitonin Gene-Related Peptide / genetics* Child Child, Preschool DNA / blood Exons Female Humans Male Mutation Polymerase Chain Reaction Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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DEO9170/DE/NIDCR NIH HHS; DK25295/DK/NIDDK NIH HHS |
| Chemical | |
Reg. No./Substance:
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83652-28-2/Calcitonin Gene-Related Peptide; 9007-12-9/Calcitonin; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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