Charcot-Marie-Tooth病1A型基因重复诊断研究

The study of gene duplication in Charcot-Marie-Tooth disease type 1A patients

  • 摘要: 目的:探察国人Charcot-Marie-Tooth病1A (CMT1A)型患者的17p11.2-p12区基因重复及与临床表现型的关系。方法:对15个CMT1家系的29名成员进行17P11.2-P12区的3个短串联重复序列标记物进行多聚酶链反应-短串联重复序列(PCR-STR)定量检测,并将检测结果结合临床资料进行分析,在100名正常对照中进行3种标记物的杂合率及多态性分析。结果:16名CMT患者中检出CMT1A重复者9名(56%),13名无症状家属中检出4名基因重复者,RM-GT、D17S1357、D17S1358三种标记物的杂合率分别为85%、77%和80% ,多态性分别为7、7和6。结论:CMT1A基因重复是国人CMT中最多见的基因突变,三种标记物的PCR-STR定量分析对CMT1A基因重复的检测有较高的敏感性和特异性,是这一基因突变的简单可靠的诊断方法,并有助于临床前期病人的诊断。

     

    Abstract: Objective: To detect the 17p11.2-p12 duplication in Chinese Charcot Marie Tooth 1 patients, and to analyze the clinical feature of the patients.Methods: Extract DNA from the peripheral white blood cell of 29 members from 15 CMT1 families. The CMT1A duplication were detected by PCR-STR quantitative analysis of 3 STR markers in 17p11.2-12 rgegion. Sensitivity of different marker was compared. Clinical features of patients diagnosis to have the CMT1A duplication were analysed. Results: In 16 patients who were diagnosed clinically and electrophysiologically as CMT1 we found 9 (56%) with the CMT1A duplication. Duplication was detected in 4 of the 13 non-symptom family members. Study of 100 normal controls shows a heteroxygosity of 85%, 77% and 80% for the 3 markers RM GT, D17S1357 and D17S1358, and polymorphism is 7, 7, 6 respectively. Conclusion: CMT1A is the most common subtype of CMT in Chinese group as in other races. STR quantitative analysis of markers on different sites in 17p11.2-p12 region provides a sensitive and reliable method for detection of CMT1A duplication. Clinical Chinese group as in other races. Detection of the duplication represents a very useful tool for diagnosis of CMT1A, especially for those without clear menifestations of clinical symptoms.

     

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