Title: Study of fragile X mutation in mental retardation and autism in males
Abstract: Objectives To detect fragile X mental retardation- 1 (FMR1) gene mutations in Chinese boys with mental retardation and autism with a modified genomic detecting technique. Methods Forty- four boys with autism and 40 boys with mental retardation who visited our hospital from 2002 to 2006 were studied. The genomic screening method for identifying the FMR1 gene mutations in male patients was established. Southern blot analysis by using the probe pfxa3 was performed subsequently. Results FMR1 gene mutation was found in 1 case with autism. Southern analysis showed that one pfxa3 fragment with an expansion of approximately 0.2 kb represented a FMR1 gene premutation. No FMR1 mutation was detected in other autistic patients and patients with mental retardation. Conclusions FMR1 gene premutation was identified in one boy with autism. The possible relationship between autism and the premutation needs to be further clarified. No full mutation of Fragile X gene was found in mental retardation and autism in this study.
Publication Year: 2006
Publication Date: 2006-01-01
Language: en
Type: article
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