软骨发育不全1例临床特点及其基因突变分析

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Abstract Objective To analyze the clinical features of an achondroplasia (ACH) patient and detect the gene mutation of FGFR3.Methods The clinical data was collected to analyze the clinical characteristics.The peripheral blood DNA of the pediatric patient and his parents was extracted, and pathogenic genes were identified using the second-generation sequencing method of hereditary bone disease.After that, the Sanger sequencing method was used for verification.Results The pediatric patient was heterozygous for C.1138G>A mutation as was proven by the second-generation sequencing method and Sanger sequencing method, but no mutation was found in the parents.Conclusions The child is diagnosed with achondroplasia and the C.1138G＞A mutation is the main pathogenesis.The detection of genes helps the diagnosis of complicated diseases.

Key words： achondroplasia fibroblast growth factor receptor 3 gene mutation

Received: 18 August 2017

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	ZHANG Yamei
	WAN Naijun
	SUN Huihui

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ZHANG Yamei,WAN Naijun,SUN Huihui. Clinical features and FGFR3 gene of a patient with achondroplasia[J]. Med. J. Chin. Peop. Armed Poli. Forc., 2018, 29(2): 159-162.

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http://journal08.magtechjournal.com/Jwk_wjyx/EN/ OR http://journal08.magtechjournal.com/Jwk_wjyx/EN/Y2018/V29/I2/159

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