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PRKARlA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PRKARlA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PRKARlA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PRKARlA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。
Objective 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.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2013年第7期579-583,共5页
Chinese Journal of Endocrinology and Metabolism
