| 叶丹阳,程丽霞.软骨发育不全合并黄韧带肥厚症一例并文献分析[J].安徽医药,待发表. |
| 软骨发育不全合并黄韧带肥厚症一例并文献分析 |
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| 投稿时间：2024-06-08 录用日期：2024-07-03 |
| DOI： |
| 中文关键词: 软骨发育不全 黄韧带肥厚 椎体狭窄 成纤维细胞因子3 基因突变 |
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| 中文摘要: |
| 目的 对2023年8月潍坊市人民医院接诊的1例软骨发育不全（Achondroplasia，ACH）患儿及其家系成员进行基因检测。方法 采集患儿及母亲清晨空腹外周静脉血各 5 mL，抽取基因组 DNA，然后 扩增，测序后得到原始测序信息，设计致病突变基因片段相关的引物，进行 PCR 扩增，然后 Sanger 测序。 结果 患儿存在杂合突变c.1138G>A，导致氨基酸发生整码突变（p.Gly380Arg），其母亲也有该基因突变位点。结论 FGFR３基因10外显子c.1138G>A的杂合突变为 ACH 的致病突变。结合一例软骨发育不全合并黄韧带肥厚症为主的患儿的临床表现，为ACH的诊断提供理论依据。 |
| 英文摘要: |
| Objective To detect the gene of a child with Achondroplasia (ACH) and family members who was admitted to the Weifang People's Hospital in August 2023. Methods 5 mL of fasting peripheral venous blood of the child and the mother were collected in the morning, the genomic DNA was extracted, amplified, the original sequencing information was obtained after sequencing, primers related to pathogenic mutation gene fragments were designed for PCR amplification, and then Sanger sequencing was performed. Results The heterozygous mutation c.1138G>A was found in the children, which led to the whole code mutation of amino acid (p.Gly380Arg). The mother also had the mutation site of this gene. Conclusion The heterozygous mutation of exon 10 of FGFR3 gene c.1138G>A is a pathogenic mutation of ACH. Combined with the clinical manifestations of a child with achondroplasia complicated with hypertrophy of ligamenta flandum, it provides a theoretical basis for the diagnosis of ACH. |
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