Aguirre E, Benítez R, Youlton R, Carvallo P
Departamento de Bioquímica, Facultad de Medicina, Universidad de Chile, Santiago de Chile.
Rev Med Chil. 1993 Sep;121(9):982-6.
The first and so far the only form of isolated growth hormone deficiency to accede to molecular genetic analysis is IGHD 1A, which has an autosomal recessive mode of inheritance. Several sizes of growth hormone gene deletions, ranging from 6.7 to 8.5 Kb are responsible for IGHD 1A. It has been reported that children with IGHD 1A have an initial good response to growth hormone treatment, followed by growth failure associated with the development of blocking antibodies against growth hormone. The effectiveness of treatment has been associated to the size of the gene deletion. We performed a molecular genetic analysis of the growth hormone locus, using Southern Blot and PCR techniques, to a 12 years old girl who fulfilled the criteria for IGHD 1A and her closer relatives. The results showed a 7 Kb deletion for the growth hormone gene in the girl and one of her brothers.
迄今为止，唯一一种接受分子遗传学分析的孤立性生长激素缺乏症形式是1A型孤立性生长激素缺乏症（IGHD 1A），它具有常染色体隐性遗传模式。几种大小的生长激素基因缺失，范围从6.7至8.5千碱基对（Kb），是导致IGHD 1A的原因。据报道，患有IGHD 1A的儿童最初对生长激素治疗反应良好，随后出现生长衰竭，并伴有抗生长激素阻断抗体的产生。治疗效果与基因缺失的大小有关。我们使用Southern印迹法和聚合酶链反应（PCR）技术，对一名符合IGHD 1A标准的12岁女孩及其近亲进行了生长激素基因座的分子遗传学分析。结果显示，该女孩及其一个兄弟的生长激素基因存在7千碱基对的缺失。
