非综合征性唇腭裂患儿CRISPLD2基因多态性与腭裂整复术后语音功能恢复效果相关性研究  

Correlation between CRISPLD2 Gene Polymorphism and Speech Function Recovery after Cleft Palate Surgery in Children with Non-syndromic Cleft Lip and Palate

作　　者：冯国维 宋佳凝 李觉慧[1] 李亚奇[1] FENG Guo-wei;SONG Jia-ning;LI Jue-hui;LI Ya-qi(Department of Stomatology,Xi’an Children’s Hospital,Xi’an 710003,China)

机构地区：[1]西安市儿童医院口腔科,西安710003

出　　处：《现代检验医学杂志》2022年第2期42-47,53,共7页Journal of Modern Laboratory Medicine

摘　　要：目的 研究非综合征性唇腭裂 (non-syndromic cleft lip and palate, NSCLP) 患儿 CRISPLD2 基因多态性与腭裂整复术后语音功能恢复效果相关性。方法 纳入 2018 年 3 月~ 2020 年 3 月在西安市儿童医院口腔科就诊的 132 例NSCLP 患儿作为观察组,按 1:1 比例纳入同期 132 例健康儿童作为对照组。采用聚合酶链式反应 - 变性高效液相色谱分 析 法 (polymerase chain reaction-denaturing high performance liquid chromatography, PCR-DHPLC) 检 测 CRISPLD2 基因各单核苷酸多态性 (single nucleotide polymorphism, SNP) 位点基因多态性,比较两组儿童 CRISPLD2 基因多态性分布。NSCLP 患儿均接受腭裂整复术干预治疗,记录患儿术后语音恢复效果。分析影响患儿术后语音功能恢复的相关因素。结果 观察组 CRISPLD2 基因 rs2934468 位点 AA 基因型频率为 42.42%,高于对照组的 19.70%,差异具有统计学意义 (χ^(2)=15.971,P < 0.05)。rs2934468 位点等位基因 A 频率增加,将显著增加 NSCLP 发病风险 (OR=1.864,95%CI=1.215 ~ 2.860)。rs2934468 位点 AA 基因型儿童发生 NSCLP 的风险较 GG 基因型和 AG 基因型儿童显著增加(OR=2.252,95%CI=1.597~3.176)。132 例 NSCLP 术后 1 年语音功能恢复优良者 108 例,优良率为 81.82%,语音功能恢复差者 24 例。不同语音功能恢复效果 NSCLP 患儿的年龄、语音训练情况、听力障碍、心理障碍、CRISPLD2 基因rs2934468 位点基因型及等位基因分布比较,差异均有统计学意义 (χ^(2)=3.915~15.873,均 P < 0.05)。Logistic 多因素分析结果显示年龄、语音训练及听力障碍是影响患儿术后语音功能恢复优良率的独立因素 ( 均 P < 0.05),而心理障碍和CRISPLD2 基因 rs2934468 位点基因型及等位基因分布并非是影响患儿术后语音功能恢复的独立因素 (P > 0.05)。结论CRISPLD2 基因 rs2934468 位点突变是 NSCLP 致病的重要因素,而其并非是影响患儿术后语音功能恢复的独立因素。早期的手�Objective To study the correlation between CRISPLD2 gene polymorphism and speech function recovery after nonsyndromic cleft lip and palate (NSCLP). Methods A total of 132 children with NSCLP treated in the Department of Stomatology of Xi’an Children’s Hospital from March 2018 to March 2020 were included as the observation group, and 132healthy children in the same period were included as the control group in a 1:1 ratio. The polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC) was used to detect single nucleotide polymorphism (SNP) of CRISPLD2 gene, and the distribution of CRISPLD2 gene polymorphism was compared between the two groups of children. All the children with NSCLP received cleft palate reconstruction intervention treatment, and the postoperative speech recovery effect was recorded. To analyze the related factors affecting the recovery of postoperative speech function in children. Results The AA genotype frequency of CRISPLD2 gene rs2934468 in the observation group was 42.42%, which was higher than that of the control group of 19.70%,the difference was statistically significant (χ^(2)=15.971, P < 0.05). The increased frequency of allele A at rs2934468 locus would significantly increase the risk of NSCLP (OR=1.864, 95%CI=1.215~2.860). The children with AA genotype at rs2934468 had a significantly higher risk of NSCLP than children with GG and AG genotypes(OR=2.252,95%CI=1.597~3.176). There were 108 cases who had excellent speech function recovery one year after operation in the 132 cases of NSCLP, the excellent and good rate of 81.82%, and 24 cases had poor speech function recovery. There were statistically significant differences in the age, speech training, hearing impairment, psychological disorder, genotype and allele distribution of CRISPLD2 rs2934468 locus in children with NSCLP of different voice function recovery effects(χ^(2)=3.915~15.873,all P < 0.05). Logistic multivariate analysis showed that age, speech training and hearing impairment were independent

关 键 词：CRISPLD2 基因多态性 非综合征性唇腭裂 语音功能 

分 类 号：R782.2[医药卫生—口腔医学] Q786[医药卫生—临床医学]