Sequence variants of the human growth hormone gene and methods for detection

摘要

The present invention relates to naturally-occuring growth hormone mutations; to a method for detecting them and their use in screening patients for growth hormone irregularities or for producing variant proteins suitable for treating such irregularities. In one aspect there is disclosed a detection method for detecting a variation in GH1 effective to act as an indicator of GH dysfunction in an individual, which detection method comprises the steps of: (a) obtaining a test sample comprising a nucleotide sequence of the human GH1 gene from the individual; and (b) comparing the sequence obtained from the test sample with the standard sequence known to be that of the human GH1 gene, wherein a difference between the test sample sequence and the standard sequence indicates the presence of a variation (hereinafter "variant of GH1") effective to act as an indicator of GH1 dysfunction characterised in that the test sample is obtained from an individual, either or both: exhibiting intra-uterine growth retardation (IUGR), defined as sufficient foetal height velocity diagnosed by standard methods known in the art; and/or small for gestational age (SGA), defined as insufficient (small) foetal body size (weight and/or length) for gestional age diagnosed by standard methods known in the art.