Genetics of Growth Hormone and Its Disorders

Phillips, John A.

doi:10.1007/978-1-4613-0785-3_5

Cited by 11 publications

(6 citation statements)

References 170 publications

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“…Finally, adaptations of our diagnostic method, such as allelic quantification by densitometry to detect carriers, and the use of DNA from amniotic fluid or chorionic villus for prenatal diagnosis [Phillips et al, 1989], would allow the establishment of genetic counseling in affected families and would also contribute valuable information for clinical specialists and to orient them in their therapeutic strategies. Fig.…”

Section: Discussionmentioning

confidence: 99%

“…Initially, screening for hGH-N gene deletions was done by Southern blot [Phillips et al, 1989]. However, with the advent of the polymerase chain reaction (PCR), simpler alternative approaches were pursued to facilitate the detection of subjects with IGHD type IA [Vnencak-Jones et al, 1990]; while none have been reported for IPLD type IA.…”

Section: Introductionmentioning

confidence: 99%

“…This alteration has a frequency of 1 case among 4,000 to 5,000 births [Vimpani et al, 1977], of which 5-30% are known to be hereditary [Rona and Tanner, 1977]. Four IGHD types are differentiated according to their pattern of inheritance, severity, and response of the affected individuals to recombinant HGH (rHGH) treatment [Phillips and Vnencak-Jones, 1989]. Among them, type IA is an autosomal recessive disorder in which endogenous HGH is absent.…”

Section: Introductionmentioning

confidence: 99%

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Molecular diagnosis of deletions in the human multigene complex of growth and placental lactogen hormones

1997

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The type IA of the isolated deficiencies (ID) of growth (HGH) and placental lactogen (HPL) hormones are frequently the consequence of deletions in their respective genes. To facilitate the diagnosis of these cases, we developed a rapid method for detecting deletions of the genes involved based on the polymerase chain reaction (PCR) technique. This method consist of the simultaneous amplification via consensus primers of the 5 genes which conform the hGH-hPL multigene family, followed by the identification of each of them in the amplification product by gene-specific patterns of restriction enzyme cuts evidenced by agarose gel electrophoresis. We demonstrate the effectiveness of our method by identifying patients with deletions in gene members of the hGH-hPL family.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Molecular diagnosis of deletions in the human multigene complex of growth and placental lactogen hormones

1997

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“…Skirtingų literatūros šaltinių duomenimis, izoliuoto hipopituitarizmo (arba izoliuoto augimo hormono deficito) paplitimas vertinamas nuo 1:4000 iki 1:10 000 gyvagimių dėl hipofizės gaminamo augimo hormono arba jo geno patologijos ir sąlygoja augimo sutrikimą (1)(2)(3)(4). Dauginis hipopituitarizmas (DHP) pasitaiko rečiau -1:8000 gyvagimių arba dar rečiau (5-7), bet jo klinikiniai simptomai yra ryškesni: tokiems pacientams kartu su augimo sutrikimu randama centrinė hipotirozė, hipogonadotropinis hipogonadizmas, gali išryš-kėti ir antrinis antinksčių nepakankamumas.…”

Section: Genetiškai Determinuotas Hipopituitarizmasunclassified

“…Turintys šią mutaciją vaikai gimimo metu būna normalaus svorio ir ūgio, nesiskiria nuo kitų sveikų naujagimių. Perinatalinis laikotarpis dažniausiai sklandus, hipoglikemija gali būti lengva ir išlikti nepastebėta, arba jos visiškai nebūna (1). Hormonų trūkumo pasireiškimo pradžia labai skirtinga: jų stygius gali išryškėti jau vaikystėje arba išlikti nepastebėtas iki paauglystės.…”

Section: Genetiškai Determinuotas Hipopituitarizmasunclassified