| abstract |
A detection method for detecting a variation in GH1 effective to act as an indicator of GH dysfunction in an individual, comprises the steps of comparing a test sample comprising a nucleotide sequence of the human GH1 gene from the individual with a standard sequence known to be that of the human GH1 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 GH1”). The test sample is obtained from a individual exhibiting the following criterion: n (i) growth failure, defined as a growth pattern [delineated by a series of height measurements; Brook CDG (Ed) Clinical Paediatric Endocrinology 3rd Ed, Chapter 9, pl41 (1995, Blackwell Science)] which, when plotted on a standard height chart [Tanner et 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. n 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. |