脆弱X症候群に関連する動的突然変異の細胞遺伝学的および分子遺伝学的解析〔英文〕
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概要
- 論文の詳細を見る
Fragile X syndrome is the most common familial form of mental retardation and known to be associated with the fragile site at Xq27.3 (FRAXA). The syndrome has recently been characterized by a unique genetic mechanism which involves dynamic mutation due to a heritable unstable DNA sequence, p(CCG)n repeat, in the FRAXA locus. We were asked to make a genetic diagnosis on the case of a normal male who has two brothers and a maternal uncle with mental retardation. We performed the pedigree analysis of the fragile X syndrome using both cytogenetic and molecular techniques. The affected two brothers and the uncle showed cytogenetic expression of the fra (X)(q27.3) and carried hypermethylated full mutation in the FRAXA locus. The phenotypically normal mother also exhibited fragile X expression and was found to be a carrier of premutation. Via female transmission, the premutation converted to full mutation and exhibited somatic heterogeneity and hypermethylation. However, both cytogenetic and molecular data did not show any evidence of fragile X mutation in the normal male client and, thus, excluded the possibility of his being a carrier.
- 日本遺伝学会の論文
- 1994-06-25
著者
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ISHIKIRIYAMA Satoshi
Division of Clinical Genetics and Cytogenetics, Shizuoka Children's Hospital
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Yamauchi Masatake
Genome Research Group National Institute Of Radiological Sciences
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HORI Tada-aki
Transcriptome Profiling Group, National Institute of Radiological Sciences
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Yamauchi Masatake
Genetics Natl. Inst. Radiol. Sci.
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YAMAUCHI Masatake
Division of Genetics, National Institute of Radiological Sciences
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SEKI Naohiko
Division of Genetics, National Institute of Radiological Science, Kazusa DNA Research Institute, Yan
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HORI Tada-aki
Division of Genetics, National Institute of Radiological Science
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Seki Naohiko
放射線医学総合研究所
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Seki Naohiko
Genome Research Group National Institute Radiological Sciences
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Hori Tada-aki
Transcriptome Profiling Group National Inst. Of Radiological Sciences
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Hori Tada-aki
Transcriptome Profiling Group National Institute Of Radiological Sciences
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Ishikiriyama S
Division Of Medical Genetics Chiba Children's Hospital
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Ishikiriyama Satoshi
Division Of Clinical Genetics And Cytogenetics Shizuoka Children's Hospital
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Yamauchi Masatake
Division Of Genetics National Institute Of Radiological Sciences
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Hori Tada-aki
Genome Res. Nirs
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Yamauchi Masatake
Division Of Genetics National Institute Of Radiological Science
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関 直彦
Division of Genetics, National Institute of Radiological Science, Kazusa DNA Research Institute, Yana
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