Correlation between Pituitary Stalk Interruption Syndrome and Prokineticin Receptor 2 and Prokineticin 2 Mutations / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
;
(6): 37-41, 2016.
Article
Dans Anglais
| WPRIM
| ID: wpr-289909
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the correlation between pituitary stalk interruption syndrome (PSIS) and prokineticin receptor 2 (PROKR2) and prokineticin 2 (RROK2) mutations.</p><p><b>METHODS</b>PROKR2 and RROK2 genotypes were identified by multiplex polymerase chain reaction analysis with exon-flanking primers and by automated sequencing techniques with peripheral blood DNA samples from 59 patients with PSIS.</p><p><b>RESULTS</b>Of these 59 PSIS patients, 6 showed intragenic deletions at the PROKR2 locus. Of them, 5 patients exhibited intragenic subsititution of exon 2 (c.991G>A), and the remaining one patient exhibited intragenic subsititution of exon 2 (c.1057C>T). No PROK2 mutation was found in these PSIS patients.</p><p><b>CONCLUSION</b>PROKR2 may be the susceptibility gene of PSIS.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Maladies de l'hypophyse
/
Neuropeptides
/
Exons
/
Récepteurs peptidiques
/
Récepteurs couplés aux protéines G
/
Hormones gastrointestinales
/
Génotype
/
Mutation
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Acta Academiae Medicinae Sinicae
Année:
2016
Type:
Article
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