用高度多态性的短串联重复序列检测腓骨肌萎缩征1A型基因重复

Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication

  • 摘要: 目的:应用位于17p11.2-p12的短串联重复序列(STR)4A、9A和9B检测腓骨肌萎缩征1A型的基因重复。方法:应用多聚酶链反应-单链构象多态性(PCR-SSCP)分析检测100例正常人4A、9A和9B的多态性与杂合率;随后应用4A、9A和9B检测30例无亲缘关系的CMT1患者的基因重复。结果:4A、9A和9B三种标记物的多态性分别为8、12和11,杂合率分别为0.75、0.84和0.81。联合应用3种标记物基因重复检出率为60%(18/30),高于本实验室原有标记物的检测率52.9%。结论:短串联重复序列4A、9A和9B在正常人群和CMT1A患者中多态性和杂合率均较高,尤其9A和9B是目前报道的多态性最高的STR,是临床上检测Charcot-Marie-Tooth 1A (CMT1A)基因重复理想的标记物。

     

    Abstract: Objective: Short tandem repeats (STRs) sequences 4A, 9A and 9B were used to detect gene duplication of Charcot Marie Tooth disease type 1A(CMT1A). Methods: Polymorphism and heterozygosity of STR 4A, 9A and 9B were analyzed in 100 normal controls using polymerase chain reaction and Single strand conformational polymophisms (PCR SSCP). Then STR 4A, 9A and 9B were used to detect gene duplication in 30 unrelated CMT1 patients. Results: The polymorphism of the 3 markers is 8, 12 and 11 respectively. The heterozygosity of them is 0.75, 0.84 and 0.81 respectively. 60%(18/30) of CMT1 patients were detected gene duplication using 3 markers. The rate is higher than that(52 9%) which was detected by the primary markers in our laboratory. Conclusion: Both polymorphism and heterozygosity of STR 4A, 9A and 9B are high in normal controls and in CMT1 patients. Especially 9A and 9B have the highest observed hetero zygosity reported to date for CMT1A markers. They are the ideal markers to detect CMT1A gene duplication clinically.

     

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