FGFR3基因突变导致软骨发育不全的产前分子诊断  

Prenatal molecular diagnosis of achondroplasia caused by FGFR3 gene mutation

作　　者：安丽梅[1] 李卫巍[1] 李科[1] 马洁桦[1] 夏欣一[1] 崔英霞[1] 黄宇烽[1] 

机构地区：[1]南京军区南京总医院解放军临床检验医学研究所,江苏南京210002

出　　处：《中国优生与遗传杂志》2012年第7期17-19,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金(30901652)

摘　　要：目的本研究对FGFR3(fibroblast growth factor receptor 3,FGFR3)基因突变导致的软骨发育不全(ACH)家系的1例中期妊娠者进行产前分子诊断,以达到优生的目的。方法患者妻子于20孕周在B超下进行羊膜囊穿刺,抽取羊水20ml,提取羊水细胞基因组DNA,对FGFR3基因外显子10进行PCR扩增并测序。结果该例胎儿FGFR3基因外显子10测序结果显示,胎儿带有与父亲一样的FGFR3基因突变(c.1138G>A),B超监测显示双顶径与孕周不相符,双顶径(PBD)值偏低,进一步证实了ACH,目前在医生的指导下已经顺利引产。结论软骨发育不全是一种少见的常染色体显性遗传病,对于有ACH风险的胎儿进行产前分子诊断非常重要,从而有效地避免患儿出生。Objective： To report the prenatal molecular diagnosis for one gravida in a family with achondroplasia （ACH） caused by c. 1138G 〉 A mutation of FGFR3 gene. Methods： DNA of the fetuse was extracted from amniotic fluid at the 20 weeks of gestation respectively. Direct sequencing revealed the samples were performed after amplifying exon 10 of FGFR3 containing the potential mutation. Results： Sequencing analysis revealed the fetus shows the mutation of FGFR3 gene as same as his father （c. 1138G 〉 A）. B - monitoring showed biparietal diameter does not match the gestational age, and biparietal diameter （PBD） is lower. Thus, it was diagnosed as ACH. Currently, under the guidance of a doctor has a smooth induction of labor. Conclusions： Aehondroplasia is a rare autosomal dominant genetic disease. Prenatal molecular diagnosis is important for the fetus with risk of ACH and useful for genetic counseling, so as to effectively prevent children born.

关 键 词：FGFR3基因突变 软骨发育不全(ACH) 产前分子诊断 

分 类 号：R714.5[医药卫生—妇产科学]