一例Apert综合征患者的FGFR2基因突变分析  

FGFR2 gene mutation in a Chinese patient with Apert syndrome

作　　者：代礼[1] 李娜娜[1] 袁玉梅[2] 刘勇[2] 朱军[1] 

机构地区：[1]四川大学华西第二医院中国出生缺陷监测中心妇儿疾病与出生缺陷教育部重点实验室西部妇幼医学研究院出生缺陷与分子流行病学实验室,成都510041 [2]湖南衡阳市妇幼保健院

出　　处：《中华医学遗传学杂志》2010年第6期682-684,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30700679）;教育部博士点新教师基金（20070610096）

摘　　要：目的 确定1例Apert综合征患者是否存在成纤维细胞生长因子受体2（fibroblast growth factor receptor 2,FGFR2）基因突变.方法 收集患者及其父母的外周血,提取基因组DNA.采用PCR扩增FGFR2基因第7和第9外显子,对PCR产物进行双向测序检测基因突变.结果 发现患者FGFR2基因第7外显子的934 C→G突变,导致了FGFR2蛋白第252位丝氨酸被色氨酸取代（S252W）,与国外报道的致病性突变一致.结论 FGFR2基因第7外显子的P34 C→G突变是该例Apert综合征的致病原因.Objective To determine the disease-causing mutation in a Chinese patient with Apert syndrome （AS）. Methods Genomic DNA was extracted from peripheral blood samples of the AS patient and his parents. Polymerase chain reaction （PCR） was used to amplify the exons 7 and 9 of fibroblast growth factor receptor 2 （FGFR2）gene. Then PCR products were sequenced bi-directionally. Results A heterozygous 934C→G transversion in exon 7 of the FGFR2 gene was detected in the patient, which resulted in the substitution of tryptophan residue for serine at position 252 of FGFR2 protein （S252W）. This mutation has been reported in AS patients previously. Conclusion This Chinese AS results from the 934 C→G mutation in exon 7 of FGFR2 gene.

关 键 词：APERT综合征 FGFR2基因 突变 

分 类 号：R686[医药卫生—骨科学]