基因检测联合肌酸激酶对PMD诊断的应用研究——附10例点突变病例分析  

Application study of gene detection combined with creatine kinase in the diagnosis of PMD——Analysis of 10 cases of point mutation

作　　者：郑奎 郑雨濛 李博[2] 郝京霞[2] 张英谦[2] ZHENG Kui;ZHENG Yumeng;LI Bo;HAO Jingxia;ZHANG Yingqian(Graduate School of Hebei Medical University,Shijiazhuang,Hebei 050011,China;Department of Cardiology,Children’s Hospital of Hebei Province,Hebei Provincial Key Laboratory of Pediatric Cardiovascular Disease,Shijiazhuang,Hebei 050000,China)

机构地区：[1]河北医科大学研究生学院,河北石家庄050011 [2]河北省儿童医院心内科/河北省小儿心血管重点实验室,河北石家庄050000

出　　处：《中国优生与遗传杂志》2022年第2期229-233,共5页Chinese Journal of Birth Health & Heredity

基　　金：河北省医学科学研究课题(20210001)。

摘　　要：目的探讨肌酸激酶(CK)升高水平结合不同基因检测技术,对进行性肌营养不良(PMD)的诊断价值。方法收集2019-1-1至2021-7-1在我院确诊的55例PMD患儿一般情况、心肌酶、基因检测等资料,分析其CK值和基因检测结果对PMD的诊断价值,并对基因结果进行分析。结果 A组(CK>8000U/L)大片段缺失/重复占89.7%,点突变占10.3%;B组(CK:3000~8000 U/L)大片段缺失/重复占86.7%,点突变占13.3%;C组(CK<3000 U/L)大片段缺失/重复占54.5%,点突变占45.5%,三组比较差异有统计学意义(P<0.005)。并总结了6例未被报道过点突变[c.9564-1G>C(N/A)、c.2699;703del(p.K900Tfs;18)、B3GALNT2:c.261-2A>G(N/A)、c.3257dupA(p.K1086Afs;11)、c.10588C>T(p.Q3530X)、c.5577delT(p.N1859Kfs;6)],其中有2例为自身新突变。结论所有PMD患儿的CK均有升高,但有部分患儿的CK升高不显著(CK<1000 U/L)。对于疑诊PMD的患儿CK>3000 U/L首选MLPA技术,MLPA检测阴性再选用二代测序检测;对于患儿CK<3000 U/L首选二代测序技术。Objective To investigate the diagnostic value of elevated creatine kinase(CK) combined with different gene detection techniques in progressive muscular dystrophy(PMD). Methods the general conditions, myocardial enzymes,gene tests and other data of 55 children with PMD diagnosed in our hospital from January 1, 2019 to July 1, 2021 were collected, the diagnostic value of CK value and gene test results for PMD were analyzed, and the gene results were analyzed.Results in group A(CK>8000 U/L), large fragment deletion/duplication accounted for 89.7% and point mutation accounted for 10.3%. In group B(CK: 3000–8000 U/L), large fragment deletion/duplication accounted for 86.7%, and point mutation accounted for 13.3%. In group C(CK<3000 U/L), large fragment deletion/duplication accounted for 54.5% and point mutation accounted for 45.5%. There was significant difference among the three groups(P<0.005). Six unreported point mutations [c.9564-1 G>C(N/A), c.2699_2703 del(p.K900 Tfs;18), B3 GALNT2: c.261-2 A>G(N/A), c.3257 dupA(p.K1086 Afs;11),c.10588 C>T(p.Q3530 X), c.5577 delT(p.N1859 Kfs;6)] were summarized, including 2 new point mutations. Conclusion CK in all children with PMD increased, but CK in some children did not increase significantly. For children with suspected PMD with CK>3000 U/L, MLPA technology is preferred, and second-generation sequencing is selected when MLPA is negative. For children with CK<3000 U/L, the second-generation sequencing technology is preferred.

关 键 词：进行性肌营养不良 多重连接依赖式探针扩增 二代测序 肌酸激酶 

分 类 号：R746.2[医药卫生—神经病学与精神病学]