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首页> 外国专利> Detection method for detecting a variation in gh1 effective to act as an indicator of gh dysfunction in an individual, gh1 variant, protein or amino acid sequence, human gh variant, screening method for screening an individual suspected of having gh1 dysfunction. gh, kit, isolated, purified or recombinant nucleic acid sequence, vector, host cell, process for preparing a gh variant, amino acid sequence, composition, and use of gh1 variant or gh variant

Detection method for detecting a variation in gh1 effective to act as an indicator of gh dysfunction in an individual, gh1 variant, protein or amino acid sequence, human gh variant, screening method for screening an individual suspected of having gh1 dysfunction. gh, kit, isolated, purified or recombinant nucleic acid sequence, vector, host cell, process for preparing a gh variant, amino acid sequence, composition, and use of gh1 variant or gh variant

机译：一种用于检测gh1变异的检测方法，该变异可有效充当个体中gh功能障碍的指标，gh1变体，蛋白质或氨基酸序列，人gh变异体，用于筛选疑似患有gh1功能障碍的个体的筛选方法。 gh，试剂盒，分离，纯化或重组的核酸序列，载体，宿主细胞，gh变体的制备方法，氨基酸序列，gh1变体或gh变体的组成和用途

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"DETECTION METHOD TO DETECT A GH1 VARIATION EFFECTIVE TO ACT AS A GH DYfunction INDICATOR, GH1 VARIANT, PROTEIN OR SEQUENCE OF HUMAN GH VARIANT HUMAN DIFFERENCE METHOD GH, KIT, ISOLATED, PURIFIED OR RECOMBINANT NUCLEIC ACID SEQUENCE, VECTOR, HOST CELL, PROCESS FOR PREPARING A GH VARIANT, SEQUENCE OF AMINO ACIDS, COMPOSITION, AND USE OF 1 GH VARIANT VARIANT. A detection method for detecting a variation in iGH1 effective to act as an indicator of GH dysfunction in an individual comprises the steps of comparing a test sample comprising an individual human GH1 gene nucleotide sequence to a standard sequence known as being from the human GH1 gene. A difference between the test sample sequence and the standard sequence indicates the presence of an effective variation to act as an indicator of GH dysfunction (hereinafter "GH1 variant"). The test sample obtained from an individual demonstrating the following criteria: (i) growth failure, defined as growth pattern (outlined by a series of height measurements, Brook CDG (Ed) Clinical Paediatric Endocrinology third edition, chapter 9, p141 (1995, Blackwell Science)] which, when plotted on a standard height chart [Tanner et al Arch Dis Child 45 755 - 762 (1970)], predicts adult height for the individual who is outside the adult height range estimated target for the individual, the estimate being based on the individual's parent heights Mutations thus detected and their use in screening patients for growth hormone irregularities or to produce variant proteins suitable for treating these irregularities are also described.
机译：“检测作为人的GH功能指标，GH1变体，蛋白质或人类GH变异人类差异方法GH，KIT，分离，纯化或重组的核酸序列，核酸序列，蛋白序列的GH1变异有效的检测方法制备GH变体，氨基酸序列，组成以及1个GH变体的使用一种检测iGH1的变化的方法，所述iGH1的变化可有效地充当个体中GH功能障碍的指标，包括比较包括以下步骤的测试样品的步骤：单个人GH1基因核苷酸序列与人GH1基因已知的标准序列之间的差异。测试样品序列与标准序列之间的差异表示存在有效变异，可作为GH功能障碍的指标（以下简称“ GH1从个体获得的测试样品，其显示出以下标准：（i）生长失败，定义为生长模式（由一系列高度表示t测量值，Brook CDG（Ed）临床小儿内分泌学第三版，第9章，第141页（1995年，布莱克威尔科学）]，当绘制在标准身高图上时[Tanner等人，Arch Dis Child 45755-762（1970）]，预测超出成年人身高范围目标的个体的成年人身高，该估计基于个体的父母身高，因此检测到的突变及其在筛选患者生长激素异常或生产适合于治疗这些变异蛋白的变异蛋白中的用途还描述了不规则之处。

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