Cloning and sequence analysis of the human parathyroid hormone gene region

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 pot...

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Bibliographic Details
Published in:Human genetics 1990, Vol.84 (2), p.119-124
Main Authors: REIS, A, HECHT, W, GRÖGER, R, BÖHM, I, COOPER, D. N, LINDENMAIER, D. N, MAYER, H, SCHMIDTKE, J
Format: Article
Language:English
Subjects:
Animals
Base Sequence
Biological and medical sciences
Cattle
Cloning, Molecular
DNA - genetics
Endocrinopathies
Female
genes
Humans
Hypoparathyroidism - genetics
Male
Medical sciences
Molecular Sequence Data
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Parathyroid Hormone - genetics
Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases)
Pedigree
Rats
Sequence Homology, Nucleic Acid
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00208924