摘要目的 通过对1个Carney综合征家系进行临床调查和分子生物学研究,根据此家系发病特点总结其遗传规律及临床特征,明确该家系PRKAR1A基因突变位点.方法 对该家系进行详细病史的问诊及体格检查,并进行相关生化检查.采集患者及其家系成员共12例DNA样本,对PRKAR1A基因9个外显子及邻近的内含子进行测序.结果 包括先证者在内,该家系中共7名成员存在PRKAR1A基因内含子c.440+4delG突变.这7名成员均有口唇、颊黏膜、指端皮肤色素沉着这一特殊体征.结论 该家系中存在PRKAR1A基因内含子c.440+4delG杂合突变,该位点突变可能与该家系成员皮肤色素沉着这一表型相关.

abstractsObjective To identify PRKAR1A mutations in a pedigree with Carney's complex through clinical investigation and molecular biology research,and to summarize the genetic law,characteristics,and clinical features of this family disease.Methods The family members received a detailed medical examination and related biochemical tests.The hereditary history and clinical features were recorded.DNAs of 12 family members were extracted from blood and 9 exons and adjacent introns of PRKAR1A were sequenced.Results PRKAR1A mutation intron4 c.440+4 delG was identified in 7 family members,including the proband's patient,who presented special signs of pigmentation on the lips,buccal mucosa,and fingertips.Conclusions The deletion mutation (c.440+4del G) in intron 4 of the PRKAR1A gene was found in this family,which is possibly associated with the phenotype skin pigmentation.