Isolated recombinant polynucleotide, nucleic acid sequence, human gh variant, screening method for screening a patient suspected of having dysfunctional gh, suitable kit for use in performing a screening method, use of a gh1 variant, antibody specific for a variant, composition, vector, host cell, process for preparing a variant of gh, amino acid sequence or protein encoded or expressed by a sequence, vector, or cell

摘要

"ISOLATED RECOMBINING POLYNUCLEOTIDE, NUCLEIC ACID SEQUENCE, HUMAN GH VARIANT, TREATMENT METHOD FOR TRIALING A DIFFICTIONAL GH PRESENT, SUITABLE KIT FOR A MECHANTIC TREATMENT OF A MECHANE, TRIPLE ANTI-TIAGENE KIT A VARIANT, COMPOSITION, VECTOR, HOST CELL, PROCESS FOR PREPARING A GH VARIANT, SEQUENCE OF AMINO ACIDS OR PROTEIN CODED OR EXPRESSED BY A SEQUENCE, VECTOR, OR CELL ". The present invention relates to naturally occurring growth hormone mutations; to a method of detecting them, and their use in screening patients for growth hormone irregularities, or to produce variant proteins suitable for treating said irregularities. In one aspect, GH1 variants are disclosed, selected from the group consisting of: (a) (i) + 480 C - T; (ii) + 446 C - T; (iii) +1491 C - G; (iv) -60 G - A; (v) -40 to -39 GG - CT; (vi) -360 A - G; and (vii) +748 A - G (where the digits refer to the nucleotide position number of GH1, counting from TSS); (b) a sequence substantially homologous to, or hybridizing to, sequence (a) under stringent conditions; (c) a sequence substantially homologous to, or hybridizing to, sequences (a) or (b) but for degeneration of the genetic code; and (d) a specific oligonucleotide for any of sequences (a), (b) or (c) above.