AI Article Synopsis
- - The study aimed to explore the link between pituitary stalk interruption syndrome (PSIS) and mutations in the prokineticin receptor 2 (PROKR2) and prokineticin 2 (PROK2) genes.
- - Researchers analyzed blood samples from 59 PSIS patients using advanced genetic testing and found that 6 had specific deletions or substitutions in the PROKR2 gene, while no mutations were detected in the PROK2 gene.
- - The findings suggest that PROKR2 may be a key gene involved in the development of PSIS, indicating a potential genetic susceptibility in affected patients.
Article Abstract
Objective: To analyze the correlation between pituitary stalk interruption syndrome (PSIS) and prokineticin receptor 2 (PROKR2) and prokineticin 2 (RROK2) mutations.
Methods: 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.
Results: 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.
Conclusion: PROKR2 may be the susceptibility gene of PSIS.
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| http://dx.doi.org/10.3881/j.issn.1000-503X.2016.01.007 | DOI Listing |
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