METHOD FOR DETECTING GROWTH HORMONE VARIATIONS IN HUMANS, THE VARIATIONS AND THEIR USES

摘要

A detection method for detecting a variation in iGHI effective to act as an indicator of GH dysfunction in an individual, comprises the steps of compari ng a test sample comprising a nucleotide sequence of the human GHI gene from th e individual with a standard sequence known to be that of the human GHI gene. A difference between the test sample sequence and the standard sequence indicates the presence of a variation effective to act as an indicator of GH dysfunction (hereinafter "variant of GHI"). The test sample is obtained from a individual exhibiting the following criterion: (i) growth failure, defines a s a growth pattern [delineated by a series of height measurements; Brook CDG (Ed) Clinical Paediatric Endocrinology 3rd Ed, Chapter 9, p141 (1995, Blackwell Science)] which, when plotted on a standard height chart [Tanneret al Arch Dis Child 45 755-762 (1970)], predicts an adult height for the individual which is outside the individual's estimated target adult height range, the estimate being based upon the heights of the individual's parents . Also disclosed are mutations thereby detected, and their use in screening patients for growth hormone irregularities or for producing variant proteins suitable for treating such irregularities.