[1]冯国维,宋佳凝,李觉慧,等.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[J].现代检验医学杂志,2022,37(02):42-47.[doi:10.3969/j.issn.1671-7414.2022.02.009]
　FENG Guo-wei,SONG Jia-ning,LI Jue-hui,et al.Correlation between CRISPLD2 Gene Polymorphism and Speech Function Recovery after Cleft Palate Surgery in Children with Non-syndromic Cleft Lip and Palate[J].Journal of Modern Laboratory Medicine,2022,37(02):42-47.[doi:10.3969/j.issn.1671-7414.2022.02.009]
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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()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第37卷
期数:
2022年02期
页码:
42-47
栏目:
论　著
出版日期:
2022-03-15

文章信息/Info

Title:
Correlation between CRISPLD2 Gene Polymorphism and Speech Function Recovery after Cleft Palate Surgery in Children with Non-syndromic Cleft Lip and Palate
文章编号:
1671-7414（2022）02-042-07
作者:
冯国维; 宋佳凝; 李觉慧; 李亚奇
( 西安市儿童医院口腔科，西安 710003)
Author(s):
FENG Guo-wei;  SONG Jia-ning;  LI Jue-hui;  LI Ya-qi
（Department of Stomatology, Xi’an Children’s Hospital, Xi’an 710003, China）
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；Q786
DOI:
10.3969/j.issn.1671-7414.2022.02.009
文献标志码:
A
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(χ2=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(χ2=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。早期的手术干预并在术后加强语音功能的训练有利于NSCLP 患儿语音功能的恢复。
Abstract:
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 132 healthy 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 (χ2=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(χ2=3.915~15.873, all P ＜ 0.05). Logistic multivariate analysis showed that age, speech training and hearing impairment were independent factors, which affected the excellent rate of postoperative speech function recovery of children (all P ＜ 0.05). Psychological disorders and genotype and allele distribution of rs2934468 of CRISPLD2 gene were not independent factors affecting postoperative speech function recovery in children (P ＞ 0.05). Conclusion　The mutation of rs2934468 of CRISPLD2 gene is an important factor in the pathogenesis of NSCLP, but it is not an independent factor affecting the recovery of postoperative speech function in children. Early surgical intervention and enhanced speech function training after surgery are beneficial to the recovery of speech function in children with NSCLP.

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备注/Memo

备注/Memo:
作者简介：冯国维（1990-），男，硕士，主治医师，研究方向：儿童口腔医学、口腔颌面外科，E-mail: 122624026@qq.com。
通讯作者：宋佳凝（1988-），女，硕士，主治医师，研究方向：儿童口腔医学，E-mail: 602688908@qq.com。
更新日期/Last Update: 1900-01-01