| 李晓捷,姜志梅,庞 伟,郭 津,赵会玲,冯欢欢,邱洪斌,孔祥颖,宋虎杰,马丙祥,唐久来,曹建国,袁兆红,邱正庆,王滨有.临床诊断脑性瘫痪儿童的遗传学分析[J].中国康复医学杂志,2021,(1):32~37 |
| 临床诊断脑性瘫痪儿童的遗传学分析 点此下载全文 |
| 李晓捷 姜志梅 庞 伟 郭 津 赵会玲 冯欢欢 邱洪斌 孔祥颖 宋虎杰 马丙祥 唐久来 曹建国 袁兆红 邱正庆 王滨有 |
| 黑龙江省小儿脑性瘫痪防治疗育中心，佳木斯大学附属第三医院，佳木斯大学康复医学院，黑龙江省佳木斯市，154002 |
| 基金项目：国家卫生和计划生育委员会公益性行业科研专项资助项目（201302001） |
| DOI：10.3969/j.issn.1001-1242.2021.01.006 |
| 摘要点击次数: 1403 |
| 全文下载次数: 1340 |
| 摘要： |
| 摘要
目的：对脑性瘫痪（简称脑瘫）儿童进行相关基因检测，通过研究基因致病性变异与临床表型之间的联系，分析脑瘫的遗传学病因，为脑瘫的早期防治提供新的见解及依据。
方法：研究对象为2015年1月至2016年6月期间诊断明确的1至12岁脑瘫儿童，来自黑龙江省小儿脑性瘫痪防治疗育中心等全国6家医院，对临床相关数据进行整理，并且采集儿童及其父母的静脉血，运用二代测序技术对相关基因进行检测，并对候选基因变异进行Sanger测序验证。
结果：共收集149例脑瘫儿童的DNA合格样本，男97例，女52例，其中14例儿童携带脑瘫可疑基因致病性变异，约占9.40%（14/149）。最终发现19个疑似致病性变异位点，在19个突变位点中有1例为新发突变，其余均为遗传性变异（遗传于亲代）。共涉及12个受累基因，分别为KANK1、ACADS、ATR、POLR3A、SLC2A1、SLC16A2、AP4S1、MECP2、GFAP、ALDH3A2、ALDH5A1、SPAST。其中，KANK1基因致病性变异频次最高，占31.58%（6/19）。ACADS、ATR、POLR3A基因均出现2次，各占10.53%（2/19）。其他突变基因只出现1次。
结论：单基因致病性变异是脑瘫的致病因素之一。KANK1基因致病性变异可能是我国脑瘫儿童的主要致病基因之一，其临床表型存在异质性。 |
| 关键词：脑性瘫痪 致病性变异 二代测序 KANK1 |
| Genetics analysis of clinical diagnosis of cerebral palsy in children Download Fulltext |
|
| The Third Affiliated Hospital of Jiamusi University， Medical Rehabilitation College of Jiamusi University， Jiamusi， Heilongjiang Province， 154002 |
| Fund Project: |
| Abstract: |
| Abstract
Objective： To detect gene mutation in children with cerebral palsy (CP) in China， and to explore the relationship between genotype and clinical phenotype of CP by analyzing the etiology of congenital CP， and to develop a new method for the prevention and early diagnosis of CP.
Method： From January 2015 to June 2016， children aged 1—12 with CP were selected from Rehabilitation Center of Children with Cerebral Palsy in Heilongjiang Province and other hospitals. Clinical data were collected in detail. Peripheral venous blood of children with CP， and their parents (trios model) was collected and DNA was extracted. Next generation sequencing was used to detect the gene mutations and Sanger sequencing was used to verify the mutations.
Result： DNA samples were collected from 149 children with CP， 97 males and 52 females. Among them， 14 children carried suspicious gene mutations of CP， accounting for 9.40% (14/149). Nineteen suspicious pathogenic variations were identified for the first time. One was a de novo mutation and the others were genetic mutations. Twelve mutation genes were KANK1， ACADS， ATR， POLR3A， SLC2A1， SLC16A2， AP4S1， MECP2， GFAP， ALDH3A2， ALDH5A1 and SPAST. Among them， KANK1 gene mutation exhibited the highest level， accounting for 31.58%(6/19)； ACADS， ATR， POLR3A gene appeared twice respectively， accounting for 10.53%(2/19)， and other mutation genes only appeared once.
Conclusion： Single gene pathogenic variation is one of the pathogenic factors of CP. KANK1 gene mutation may be one of the main pathogenic genes in children with CP in China， and its clinical phenotype is heterogeneous. |
| Keywords:cerebral palsy pathogenic variation next generation sequencing KANK1 |
|
| 查看全文 查看/发表评论 |
