Mutation study of fragile X mental retardation 1 in Chinese Han autism spectrum disorder children

LIU Xian; CHEN Yan-ping; ZHOU Xue; WANG Xue-lai; SUN Meng; LIANG Shuang; WU Li-jie

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Chinese Journal of Child Health Care ›› 2011, Vol. 19 ›› Issue (8) : 701-703.

Mutation study of fragile X mental retardation 1 in Chinese Han autism spectrum disorder children

LIU Xian¹, CHEN Yan-ping², ZHOU Xue¹, WANG Xue-lai¹ , SUN Meng¹, LIANG Shuang¹, WU Li-jie¹

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Abstract

【Objective】 To analyze the mutation condition of fragile X mental retardation 1(FMR-1) in Chinese Han autism spectrum disorder(ASD) children using optimized PCR system and STR fluorescence technology. 【Methods】 From January 2007 to October 2010, 466 Chinese Han ASD children were recruited for this study by the Children Development Behavior Research Center of Harbin Medical University. Among 466 Chinese Han ASD children, 433 children were diagnosed as typical autism; 33 children were diagnosed as pervasive developmental disorder-not otherwise specified(PDD-NOS). Total genomic DNA was extracted from peripheral blood leukocytes(3 to 5mL whole blood), and PCR amplifications were performed in a total volume of 25 μL containing 50 ng of genomic DNA. The expanded range of allele sizes were detected by gel visualization and STR fluorescence technology. 【Results】 464(99.57%)PCR products of ASD children were amplified successfully. Those PCR implications which fragment size was less than 500 bp, were further verified by STR fluorescence technologies. At the same time, the DNA samples of two autism patients(0.43%) were not amplified successfully by PCR, excluding the possibility of DNA quality and operational problems, and deduced them as abnormal mutation of fragile X mental retardation 1(FMR-1). 【Conclusions】 Using optimized PCR system and STR fluorescence technology can significantly provide the CGG repeat numbers of alleles. The incidence of the mutation of FMR-1 gene in the Chinese Han ASD children is 0.43%.

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PCR / autism spectrum disorder / autism / FMR-1 gene / fragile X syndrome

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LIU Xian, CHEN Yan-ping, ZHOU Xue, WANG Xue-lai , SUN Meng, LIANG Shuang, WU Li-jie. Mutation study of fragile X mental retardation 1 in Chinese Han autism spectrum disorder children[J]. Chinese Journal of Child Health Care. 2011, 19(8): 701-703

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