The calcitonin-CGRP gene in the infantile hypercalcaemia/Williams-Beuren syndrome.
We have investigated 13 families, each of which have one member with infantile hypercalcaemia/Williams-Beuren syndrome (IHWBS), for either a germ cell mutation of, or an association with, the calcitonin-CGRP gene. Restriction fragment mapping studies of the calcitonin-CGRP gene using five restriction enzymes (TaqI, Bg/II, PvuII, PstI, and SacI) and region specific probes failed to show any abnormalities of this gene complex. NO association of IHWBS with polymorphism of the calcitonin-CGRP/parathormone locus was found. Therefore, although the aetiology of IHWBS may be caused by a new dominant mutation, there is no evidence to implicate major rearrangements of the calcitonin-CGRP and parathormone genes.
Hitman
G A
GA
Garde
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Daoud
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W
Snodgrass
G J
GJ
D001024:Aortic Valve Stenosis / Q000235:genetics*; D002116:Calcitonin / Q000235:genetics*; D015740:Calcitonin Gene-Related Peptide / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D006239:Haplotypes; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics*; D010281:Parathyroid Hormone / Q000235:genetics; D010375:Pedigree; D015183:Restriction Mapping; D013577:Syndrome
D010281:Parathyroid Hormone; D002116:Calcitonin; D015740:Calcitonin Gene-Related Peptide