Correlation between Pituitary Stalk Interruption Syndrome and Prokineticin Receptor 2 and Prokineticin 2 Mutations.
- Author:
Bai-yu HAN
1
,
2
;
Le-le LI
3
;
Cheng-zhi WANG
3
;
Qing-hua GUO
3
;
Zhao-hui LV
3
;
Yi-ming MU
3
;
Jing-tao DOU
3
Author Information
- Publication Type:Journal Article
- MeSH: Exons; Gastrointestinal Hormones; Genotype; Humans; Mutation; Neuropeptides; Pituitary Diseases; Receptors, G-Protein-Coupled; Receptors, Peptide
- From: Acta Academiae Medicinae Sinicae 2016;38(1):37-41
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo analyze the correlation between pituitary stalk interruption syndrome (PSIS) and prokineticin receptor 2 (PROKR2) and prokineticin 2 (RROK2) mutations.
METHODSPROKR2 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.
RESULTSOf 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.
CONCLUSIONPROKR2 may be the susceptibility gene of PSIS.
