Cloning and sequence analysis of the human parathyroid hormone gene region

Reis, A., Hecht, W., Gröger, R., Böhm, I., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Lindenmaier, W., Mayer, H. and Schmidtke, J. 1990. Cloning and sequence analysis of the human parathyroid hormone gene region. Human Genetics 84 (2) , pp. 119-124. 10.1007/BF00208924

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Abstract

A region of 50 kb around the human PTH gene was cloned and mapped by restriction analysis. Sequence analysis was performed and 3270bp determined, completing the sequence of the gene. The nucleotide sequence was analysed with regard to homology between human, bovine and rat PTH genes, and various potential cis-acting regulatory elements were identified. The gene region lacks an obvious CpG island. The PTH gene region in patients suffering from (pseudo)-hypoparathyroidism was investigated by Southern blotting. No detectable alteration in the fragment patterns was observed. Results of segregation analysis in families with affected individuals was inconclusive.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Springer
ISSN:	0340-6717
Last Modified:	27 Oct 2022 08:21
URI:	https://orca.cardiff.ac.uk/id/eprint/62061

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