软骨发育不全的产前基因诊断  

Prenatal diagnosis of achondroplasia

作　　者：黄轩[1] 黄林环[1] 方群[1] 陈敏玲[1] 周祎[1] 蔡坚[1] 陈宝江[1] 陈筠虹[1] 

机构地区：[1]中山大学附属第一医院妇产科胎儿医学中心,广州510080

出　　处：《中华医学遗传学杂志》2008年第4期427-429,共3页Chinese Journal of Medical Genetics

基　　金：2006年广东省科技计划项目（2005B34201023）

摘　　要：目的通过产前成纤维细胞生长因子受体3（fibroblast growth factor receptor3，FGFR3）基因检测确诊胎儿软骨发育不全。方法经脐带穿刺获取78例短肢发育异常胎儿脐血，常规行核型分析，并提取基因组DNA，扩增FGFR3基因第10外显子，应用限制酶BfmI进行限制性片段长度多态性分析，并对其行DNA双向测序。同法分析阳性胎儿双亲FGFR3基因第10外显子。结果短肢发育异常78例胎儿中，8例为G1138A杂合突变，诊断为软骨发育不全，其核型分析正常。余70例短肢发育异常胎儿，FGFR3基因第10外显子第1138位核苷酸检测结果正常，排除软骨发育不全。8例患病胎儿双亲中，1例父亲同为G1138A杂合突变，余检测结果正常。结论对超声诊断的胎儿短肢发育异常，通过脐血FGFR3基因第10外显子的PCR-限制性片段长度多态分析和DNA双向测序，产前能明确诊断软骨发育不全。Objective To diagnose achondroplasia prenatally by FGFR3 gene detection. Methods Seventyeight fetuses affected by short-linrb dysplasias were recruited. Umbilical blood sampling was employed to obtain fetal blood for karyotyping and FGFR3 gene detection. Genomic DNA was extracted, and the exon 10 of the FGFR3 gene was amplified. PCR amplicons were analyzed by DNA sequencing and restriction fragment length polymorphism with Bfm I . The FGFR3 exon lO from the parents of the positive fetuses was screened by the same method. Results In78 fetuses affected with short-limb dysplasias, 8 cases had G1138A heterozygotic mutation and normal karyotype, and were diagnosed as achondroplasia. The other 70 fetuses had normal nucleotide at nucleotide 1138 in exon 10 of FGFR3, therefore were excluded from achondroplasia. Only one father in parents of the 8 achondroplasia fetuses also had the G1138A mutation. Conclusion Achondroplasia could be diagnosed prenatally in the fetuses affected with short-limb dysplasias by using PCR-RFLP and DNA sequencing of the exon 10 of the FGFR3 gene.

关 键 词：软骨发育不全 产前诊断 基因诊断 成纤维细胞生长因子受体3 

分 类 号：R686[医药卫生—骨科学]