MUTATIONS IN EXON-7 OF THE CTP-BINDING PROTEIN G(S)ALPHA WERE NOT A COMMON-CAUSE OF PSEUDOHYPOPARATHYROIDISM WITH ALBRIGHTS HEREDITARY OSTEODYSTROPHY IN JAPANESE

The identification of unique point mutations in patients with pseudohy poparathyroidism (PHP) with Albright's hereditary osteodystrophy (AHO) in different ethinic backgrounds has proved that defects within the G (s) alpha gene account for G(s) alpha deficiency in those patients. To search a mutation hot spot of the G(s) alpha gene in Japanese patient s, we have screened exons 2-13 of the G(s) alpha gene for mutations in three unrelated Japanese PHP patients with AHO. We could find no abno rmalities by denaturing gradient gel electrophoresis and no mutations of sequencing of exon 7 in these subjects. This suggests that mutation s in exon 7 of the G(s) alpha gene may not be a common cause of PHP wi th AHO in Japanese.