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ID 110714
著者
品原, 久美 Department of Pediatrics, The University of Tokushima School of Medicine
サイジョウ, タカヒコ Department of Pediatrics, The University of Tokushima School of Medicine
森, 健治 Department of Pediatrics, The University of Tokushima School of Medicine 徳島大学 教育研究者総覧 KAKEN研究者をさがす
黒田, 泰弘 Department of Pediatrics, The University of Tokushima School of Medicine 徳島大学 教育研究者総覧
キーワード
FMR1
SSCP analysis
screening
mental retardation
point mutation
資料タイプ
学術雑誌論文
抄録
Fragile X syndrome is one of the most common causes of mental retardation in males, and patients with fragile X syndrome occasionally develop autism. It is usually caused by an expansion of the trinucleotide repeat in the 5’-untranslated region of the FMR1 gene, but in a small number of patients deletions and point mutations have been identified. We screened all 17 exons of the FMR1 gene for mutations in 90 autistic or mentally retarded children using polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. No mutations were found in 76male patients. However, one female patient was heterozygous for a normal allele and a mutant allele with an A to C substitution at nucleotide 879 in exon 9. This mutation was not found in 50 controls. Reverse transcription-PCR revealed that a large proportion of the mutant transcripts were spliced aberrantly, causing premature termination of the protein synthesis. Although uncommon, point mutations in theFMR1 gene maybe a cause of autism and mental retardation in Japanese patients.
掲載誌名
The journal of medical investigation : JMI
ISSN
13431420
cat書誌ID
AA11166929
51
1-2
開始ページ
52
終了ページ
58
並び順
52
発行日
2004-02
出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
医学系