[Molecular genetic study of a severe growth hormone deficiency in a Chilean family].

Abstract:

: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.

journal_name

Rev Med Chil

journal_title

Revista medica de Chile

authors

Aguirre E,Benítez R,Youlton R,Carvallo P

subject

Has Abstract

pub_date

1993-09-01 00:00:00

pages

982-6

issue

9

eissn

0034-9887

issn

0717-6163

journal_volume

121

pub_type

杂志文章
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    authors: Cartier L,Hernández JE,Stuardo A,González J,Villagra R

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    journal_title:Revista medica de Chile

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  • [The Revista Médica de Chile, 100 years ago].

    abstract::The september 1888 issue of the Journal contains an article by Luis Asta-Buruaga MD, "Ambulances in New York: a system to be instituted in Santiago. In addition to encouraging this project, the idea of establishing small hospitals in peripheral quarters of the city is discussed. Dr Asta-Buruaga was a graduate from Col...

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    更新日期:1989-01-01 00:00:00

  • [Use of platelet rich plasma in knee ligament surgery].

    abstract::Platelet Rich Plasma (PRP) is used in musculoskeletal lesion surgery, including muscle, bone, tendons and ligaments. PRP might accelerate the healing process and the integration of the graft, allowing an earlier return to sports activities of patients. PRP is obtained from autologous blood, which is centrifuged, obtai...

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  • [Prevalence of risk factors to cardiovascular disease in group of Chilean employees].

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    abstract::This article explores the causes of the crisis in the role of internists. As in the United States, the progressive specialization of internists lead to a dehumanized, expensive and technical practice of medicine. Aiming to better incomes and prestige, more than 60% of internists practice as specialists. Primary care p...

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  • [Intensive chemotherapy for Burkitt lymphoma in HIV positive patients].

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    journal_title:Revista medica de Chile

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    authors: Gatica MA,Morales H,Harz C,Espinoza A

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  • [Incidence of hypocalcemia after total thyroidectomy].

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    authors: Cherres O,Bugedo G,Torregrosa S,Coloma R,De la Fuente J

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    authors: Burrows R

    更新日期:2000-01-01 00:00:00

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    journal_title:Revista medica de Chile

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    更新日期:2009-02-01 00:00:00

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  • [Cutaneous infection by mycobacterium marinum: case report].

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