垂体柄中断综合征与前动力蛋白受体2和前动力蛋白2基因突变的相关性分析

Correlation between Pituitary Stalk Interruption Syndrome and Prokineticin Receptor 2 and Prokineticin 2 Mutations

目的分析垂体柄中断综合征(PSIS)与前动力蛋白受体2(PROKR2)和前动力蛋白2(PROK2)基因突变的相关性。方法采用聚合酶链反应和基因测序方法对59例PSIS患者基因组DNA的PROKR2和PROK2基因外显子分别进行测序与突变分析。结果 59例PSIS患者中,6例发现PROKR2基因突变,其中5例位于第2外显子c.991G>A,1例位于第2外显子c.1057C>T。未发现PROK2基因突变。结论 PROKR2基因可能是PSIS患者的易感基因。

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. 991 G〉A）,and the remaining one patient exhibited intragenic subsititution of exon 2（ c. 1057 C〉T）. No PROK2 mutation was found in these PSIS patients. Conclusion PROKR2 may be the susceptibility gene of PSIS.