C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/18 (2006.01) A61K 38/27 (2006.01) C07K 14/61 (2006.01) C07K 16/26 (2006.01) C12Q 1/68 (2006.01) G01N 33/74 (2006.01)
Patent
CA 2463639
The present invention relates to naturally-occurring 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 variants of GH1, selected from the group consisting of: (a) (i) +480 C .fwdarw. T; (ii) +446 C .fwdarw. T; (iii) +1491 C .fwdarw. G; (iv) -60 G .fwdarw. A; (v) -40 to -39 GG .fwdarw. CT; (vi) -360 A .fwdarw. G; and (vii) +748 A .fwdarw. G (where figures relate to GH1 nucleotide position number, counting from TSS); (b) a sequence substantially homologous to or that hybridises to sequence (a) under stringent conditions; (c) a sequence substantially homologous to or that hybridises to the sequences (a) or (b) but for degeneracy of the genetic code; and (d) an oligonucleotide specific for any of the sequences (a), (b) or (c) above.
La présente invention concerne les mutations naturelles de l'hormone de croissance, et une méthode de détection de celles-ci et leur utilisation dans le criblage de patients à la recherche d'irrégularités de l'hormone de croissance ou afin de produire des variants protéiques adaptés pour traiter de telles irrégularités. Un aspect de l'invention concerne des variants de <I>GH1</I>, sélectionnés dans le groupe comprenant: (a) (i) +480 C .fwdarw. T; (ii) +446 C .fwdarw. T; (iii) +1491 C .fwdarw. G; (iv) -60 G .fwdarw. A; (v) -40 to -39 GG .fwdarw. CT; (vi) -360 A .fwdarw. G; et (vii) +748 A .fwdarw. G (les nombres correspondent au numéro de position nucléotidique de <I>GH1</I>, à partir de TSS); (b) une séquence sensiblement homologue ou s'hybridant à la séquence (a) dans de strictes conditions strictes; (c) une séquence sensiblement homologue ou s'hybridant aux séquences (a) ou (b) sans dégénérescence du code génétique; et (d) un oligonucléotide spécifique pour une quelconque des séquences (a), (b) ou (c) ci-dessus.
Cooper David Neil
Gregory John
Lewis Mark
Millar David Stuart
Procter Anne Marie
Smart & Biggar
University College Cardiff Consultants Limited
University Of Wales College Of Medicine
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