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一例不典型Apert综合征的遗传学分析

发表时间:2011-12-15  浏览量:1028  下载量:452
全部作者: 李娜娜,李艳华,邓莹,代礼
作者单位: 四川大学华西第二医院妇儿疾病与出生缺陷教育部重点实验室;四川大学华西第二医院西部妇幼医学研究院出生缺陷与分子流行病学实验室;四川大学华西第二医院;四川大学华西第二医院中国出生缺陷监测中心
摘 要: 目的:检测一例不典型Apert综合征(Apert syndrome,AS)的致病性基因突变,探讨基因型-表型关系。方法:对患者进行临床检查和影像学检查;收集患者和其他3名家庭成员的外周血,提取基因组DNA. 采用PCR扩增成纤维细胞生长因子受体2(fibroblast growth factor receptor 2, 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:患者上下肢出现对称性并指/趾畸形,无明显颅面部异常;检测到杂合型的FGFR2 934 C→G(S252W,丝氨酸被色氨酸取代)突变。结论:该例不典型Apert综合征由FGFR2基因934 C→G突变所致。
关 键 词: 医学遗传学;Apert综合征;FGFR2基因;突变
Title: Genetic analysis on a Chinese patient with atypical Apert syndrome
Author: LI Nana, LI Yanhua, DENG Ying, DAI Li
Organization: Ministerial Key Laboratory of Women and Children Disease and Birth Defects, West China Second University Hospital, Sichuan University; Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University; West China Second University Hospital, Sichuan University; National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University
Abstract: Objective: To determine the causative mutation in a Chinese patient with atypical Apert syndrome (AS) and discuss the genotype-phenotype relationship. Methods: The patient accepted a comprehensive physical and radiographic evaluation. Genomic DNA was extracted from peripheral blood samples of the affected and other three family members. The exon 7 and exon 9 of fibroblast growth factor receptor 2 (FGFR2) gene were amplified by polymerase chain reaction (PCR). Then the products were sequenced bi-directionally for mutation screening. Results: The affected individual had symmetrical syndactyly both in hands and feet, but no craniofacial findings of Apert syndrome. A heterozygous 934C→G transversion of FGFR2 gene (S252W) was detected only in the patient. Conclusion: This atypical AS resulted from the 934 C→G mutation in FGFR2.
Key words: medical genetics; Apert syndrome; FGFR2 gene; mutation
发表期数: 2011年12月第23期
引用格式: 李娜娜,李艳华,邓莹,等. 一例不典型Apert综合征的遗传学分析[J]. 中国科技论文在线精品论文,2011,4(23):2026-2030.
 
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