期刊论文详细信息
Brazilian Journal of Medical and Biological Research
Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
I.j.p. Arnhold2  M.g.f. Osorio2  S.b. Oliveira2  V. Estefan2  T. Kamijo1  M.r.s. Krishnamani1  J.d. Cogan1  J.a. Phillips Iii1  B.b. Mendonça2 
[1] ,Universidade de São Paulo
关键词: growth;    growth hormone;    dwarfism;    gene;   
DOI  :  10.1590/S0100-879X1998000400003
来源: SciELO
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【 摘 要 】

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 (~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

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License

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