杜氏肌营养不良患儿的相关基因研究  

A study on correlated gene of childhood Duchenne muscular dystrophy

作　　者：蔡虹[1] 王立文[1] 吴建新[1] 李媛媛[1] 徐光芝[1] 许克铭[1] 罗桂芳[1] 邹丽萍[2] 秦炯[3] 

机构地区：[1]首都儿科研究所,北京100020 [2]北京市儿童医院 [3]北京大学第一临床医院儿科

出　　处：《中国实用儿科杂志》2002年第7期412-414,421,共4页Chinese Journal of Practical Pediatrics

摘　　要：目的　对确诊为杜氏肌营养不良 (DMD)患儿血清进行基因和肌酸磷酸激酶 (CPK)检测 ,以研究DMD的基因缺失情况以及与CPK的关系。方法　①采用多重引物PCR的方法检测基因缺失 ;②应用多功能全自动生化仪检测CPK。结果　① 30例患儿中基因缺失者 17例 (5 6 7% ) ,单一缺失者 8例 (47 1% ) ,多重缺失 9例(5 2 9% )。其中外显子 5 1缺失占 6 4 7% (11人次 ) ,其次为 4 8缺失占 5 2 9% (9人次 ) ;4 5缺失占 35 2 % (6人次 ) ;4 4缺失占 17 6 % (3人次 ) ;12缺失占 11 8% (2人次 ) ;外显子 8、17、19缺失各 1人次 ,各占 5 9%。②外显子缺失者CPK(1196 2 78± 6 30 5 6 5 )IU/L与无外显子缺失者CPK (95 37 6 9± 4 30 3 85 )IU/L相比 ,单一缺失者CPK(1170 4 6 5± 6 5 6 1 10 )IU/L与多重缺失者CPK(12 192 2 2± 6 0 96 80 )IU/L比较 ;单纯外显子 5 1缺失CPK(135 4 2 10± 5 5 73 93)IU/L与外显子 5 1缺失合并 4 8缺失者CPK(12 2 16 2 5± 6 833 75 )IU/L相比 ,三组均P >0 0 5 ,无显著性差异。结论　①应用PCR技术检测DMD基因缺失检出率较高 ,多重缺失占 4 7 1% ,其中以外显子 5 1、4 8、4 5缺失最多见 ;Objective To explore the gene deletions as well as evaluate the relationship between gene deletions and the serum creatine kinase (CPK, CK) levels in patients with Duchenne muscular dystrophy (DMD).Methods Blood samples from 30 DMD patients were screened for the gene deletions by polymerase chain reaction (PCR) and detected CPK levels by autoanalyzer.Results ①The gene deletion accounted for 56 7% (17 cases) of total patients,in which monogene deletion held 47% (8),multigene deletion 52 9% (9);exon 51 deletion 64 7% (11),exon 48,45,44,12 deletion occupied 52 9% (9),35 2% (6),17.6% (3),and 11 8% (2),respectively,exon 8,17,19 deletion each accounted for 5 9% (1 for each).②There was no significant difference in CPK levels between exon deletion and non deletion group (11962.78±6305 65IU/L vs 9537 69±4303.85IU/L),monogene and multigene deletion group (11704 65±6561 10IU/L vs 12192 22±6096 80IU/L),exon 51 deletion and united (exon 51&48) deletion group (13542 10±5573 93IU/L vs 12216 25±6833 75IU/L)(P>0 05). Conclusin ①PCR assay was a convenient and sensitive method for detecting the gene deletion in DMD patients.It is found that the rate of multigene deletion among these patients was 47%.②There was no notable correlation between gene deletion type and CPK levels.

关 键 词：杜氏肌营养不良 DMD 聚合酶链反应 肌酸磷酸激酶 儿童 基因缺失 

分 类 号：R746.2[医药卫生—神经病学与精神病学]