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。
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.
出处
《军医进修学院学报》
CAS
1999年第4期251-253,共3页
Academic Journal of Pla Postgraduate Medical School
