短肢畸形胎儿FGFR3基因突变分析

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Abstract Objective To identify the fibroblast growth factor receptor 3 (FGFR3) mutation of fetuses with short limbs deformity and carry out genetic counseling by fetuses found in ultrasound screening. Methods The genomic information of FGFR3 full 17 exon amplification from UCSC Genome Bioinformatics, including 2 genome transcripts were extracted as a standard sequence, 8 pairs of primers were designed. 5 fetuses suspected to be with short limb deformities in the First Affiliated Hospital of Hebei North University from January 2014 to December 2016 were selected and the amniotic fluid of the fetuses in high-risk was collected for detection of mutation of FGFR3 gene by polymerase chain reaction and Sanger gene sequencing. The mutation of the sequencing of FGFR3 gene was carried out by CodonCode Aligner software. Results Among the 5 fetuses with short limbs deformity, 1 case was carried mutations C.1138G> A (P.Arg380Gly) on the 7th (FGFR3-7-IS1, transcript NM_000142.4). FGFR3 mutation were not found in the other 4 cases. Genetic counseling was conducted on 5 cases of fetal parents. Conclusion The detection of prenatal FGFR3 gene mutation in suspected patients using gene sequencing could effectively prevent the birth of short limb deformity patients.

Key words： Short limb deformity Achondroplasia Fibroblast growth factor receptor-3 Mutation Prenatal diagnosis

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	SU Hua1 CHEN Chen2 ZHANG Bin1

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SU Hua1 CHEN Chen2 ZHANG Bin1. Analysis on FGFRS genetic mutation of fetuses with short limbs deformity[J]. 中国医药导报, 2017, 14(35): 17-19.

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http://www.yiyaodaobao.com.cn/EN/ OR http://www.yiyaodaobao.com.cn/EN/Y2017/V14/I35/17

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