中国首例adult综合征家系的p63基因突变分析-analysis of p63 gene mutation in chinas first adult syndrome family.docx

广州医学院硕士研究生论文中国首例 广州医学院硕士研究生论文 中国首例 ADULT 综合征家系的 p63 基因突变研究 PAGE PAGE 4 ADULT syndrome are still not well known. The further study of the genetics of this disorder contributes to its diagnosis, prevention and treatment. . Objective To definite the mutation site of p63 gene in the first family with ADULT syndrom and investige mutation of p63 gene and the relationship between the ADULT syndrome. It is important to Clinical genetic diagnosis and treatment of this disease. Methods Mutation analysis of p63 gene in the first family was performed using direct DNA sequencing. Results The sequence analysis of exon 8 of p63 gene disclosed a heterozygous GA substitution at nucleotide 893 (R298Q) in the proband. In addition, a single nucleotide polymorphism (SNP) rin 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 A heterozygous mutation of R298Q in exon 8 of p63 gene revealed in the first case of Chinese ADULT syndrome. ADULT syndrome may be caused by the p63 gene mutation, and it might have closer genetic association with the paternal side in this family. Keywords: ADULT syndrome; p63 gene; mutation; single nucleotide polymorphism 缩略词表 英文缩写 英文全称 中文全称 ADULT syndrom acro-dermato-ungual-lacrimal-tooth syndrome 成人综合症 SNP Single nucleotide polymorphism 单核苷酸多态性 PCR Polymerase chain reaction 聚合酶链式反应 EEC Ectrodactyly-ectodermal dysplasia-clefting 缺指–外胚层发育异 常–劈裂综合征 4 4 LMS Limp-mammary syndrom 肢体–乳腺综合征 AEC anklyoble ectodermal cleft 睑缘粘连–外胚层发 育异常–唇/腭裂综合 征 SHFM Split-hand/Split-foot malformation 劈裂手（足）畸形 HUGO The Human Genome Organization 人类基因组组织 HGD The Human Genome Diversity Project) 人类基因组多样性计 划 RFLP restriction fragment length polymorphism 限制性片段长度多态 性 STR Short tandem repeat 短串联重复序列 40 40 学位论文原创性声明 本人