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A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome

摘要:

Background Nevoid basal cell carcinoma syndrome(NBCCS)is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation.Mutation of patched gene(PTCH),considered the molecular defect of NBCCS,in a Chinese NBCCS family was investigated in this study.Methods Genomic DNA was isolated from blood samples of all 12 members of this family.The mutated PTCH gene was screened by polymerase chain reaction amplification and di rect sequencing.Results A new mutation of 3 bp(GAT deletion)was found in all seven affected members of this family.This mutation caused one aspartate deletion in the fourth transmembrane domain of the PTCH protein located within the sterol sensing domain(SSD).This deletion was not found in any unaffected members of this family nor in 200 controI samples.Conclusions Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.

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作者单位: Department of Oral and Maxillofacial Surgery,Ninth People's Hospital,Shanghai Jiaotong University School of Medicine,Shanghai Key Laboratory of Medicine,Shanghai 200011,China [1]
期刊: 《中华医学杂志(英文版)》2008年121卷2期 118-121页 SCISCIEMEDLINEISTICCSCDCABP
分类号: R73
栏目名称: ORIGINAL ARTICLES
发布时间: 2008-06-05
基金项目:
国家自然科学基金 上海市重点学科建设项目
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