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.
Artigo
em Inglês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Doenças da Hipófise
/
Neuropeptídeos
/
Éxons
/
Receptores de Peptídeos
/
Receptores Acoplados a Proteínas G
/
Hormônios Gastrointestinais
/
Genótipo
/
Mutação
Limite:
Humanos
Idioma:
Inglês
Revista:
Acta Academiae Medicinae Sinicae
Ano de publicação:
2016
Tipo de documento:
Artigo
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