中华医学杂志（英文版）2009，Vol.122Issue(16)：1867-1871,5.DOI:10.3760/cma.j.issn.0366-6999.2009.16.006
Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome
Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome
摘要
Abstract
Background ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome) is a rare ectodermal dysplasia disorder known as autosomal dominant inheritance.Recent studies have linked p63 gene mutation to the development of this disease.However,the genetic characteristics of ADULT syndrome were still not well understood.Methods Mutation analysis of p63 gene in the first Chinese ADULT syndrome family was performed using direct DNA sequencing.Results The sequence analysis of exon 8 of p63 gene disclosed a heterozygous G＞A substitution at nucleotide 893 (R298Q) in the proband.In addition,a single nucleotide polymorphism (SNP) rs16864880 in the downstream flanking region (DFR) of p63 exon 8 was also identified in this family.The proband and the paternal side including her father exhibited the C/G genotype at this position.The C/G variant frequency in the paternal was significantly higher as compared with the maternal (6/10 vs 0/6,P=0.034).Conclusions ADULT syndrome may be caused by the p63 gene mutation,and it might have closer genetic association with the paternal side in this family.关键词
ADULT syndrome/p63 gene/mutation/single nucleotide polymorphismKey words
ADULT syndrome/p63 gene/mutation/single nucleotide polymorphism分类
医药卫生引用本文复制引用
WANG Xia,YANG Jian,TAO Ai-lin,YANG Wen-lin,ZHANG Hong-juan..Mutation analysis of p63 gene in the first Chinese family with ADULT syndrome[J].中华医学杂志（英文版）,2009,122(16):1867-1871,5.基金项目
This work was supported by a grant from Guangdong Natural Science Foundation of China (No.06022455). （No.06022455）
