Arnhold I J, Osorio M G, Oliveira S B, Estefan V, Kamijo T, Krishnamani M R, Cogan J D, Phillips J A, Mendonca B B
Unidade de Endocrinologia do Desenvolvimento, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Brasil.
Braz J Med Biol Res. 1998 Apr;31(4):491-7. doi: 10.1590/s0100-879x1998000400003.
Genomic DNA from 23 patients with isolated growth hormone (GH) deficiency (12 males and 11 females: heights -4.9 +/- 1.4 SDS) was screened for GH gene deletions by restriction endonuclease analysis of polymerase chain reaction amplification products. Three unrelated patients had typical features of severe GH deficiency and deletions (6.7 kb in two and 7.6 kb in one) of the GH gene. The two patients with 6.7-kb deletions developed growth-attenuating anti-GH antibodies whereas the patient with the 7.6-kb deletion continued to grow with GH replacement therapy. Our finding that 3/23 (approximately 13%) Brazilian subjects had GH gene deletions agrees with previous studies of severe isolated GH deficiency subjects in other populations. Two of three subjects (67%) with deletions developed blocking antibodies despite administration of exogenous GH at low doses. Interestingly, only 1/10 of cases with affected relatives or parental consanguinity had GH-1 gene deletions.
通过对聚合酶链反应扩增产物进行限制性内切酶分析，对23例孤立性生长激素（GH）缺乏症患者（12例男性和11例女性：身高 -4.9 +/- 1.4 SDS）的基因组DNA进行GH基因缺失筛查。3例无亲缘关系的患者具有严重GH缺乏的典型特征，且存在GH基因缺失（2例为6.7 kb，1例为7.6 kb）。2例有6.7 kb缺失的患者产生了抑制生长的抗GH抗体，而有7.6 kb缺失的患者在接受GH替代治疗后继续生长。我们发现3/23（约13%）的巴西受试者存在GH基因缺失，这与之前对其他人群中严重孤立性GH缺乏症受试者的研究结果一致。3例有缺失的受试者中有2例（67%）尽管给予低剂量外源性GH仍产生了阻断抗体。有趣的是，在有患病亲属或父母近亲婚配的病例中，只有1/10存在GH-1基因缺失。
