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Mechanisms for the Occurrence of Three Uniparental Disomies Associated with Abnormal Phenotypes
http://hdl.handle.net/10069/16112
http://hdl.handle.net/10069/1611263f1e6e8-d243-4287-8afa-3fa2dbe04c01
名前 / ファイル | ライセンス | アクション |
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acta43_03_03_t.pdf (782.9 kB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2008-03-13 | |||||
タイトル | ||||||
タイトル | Mechanisms for the Occurrence of Three Uniparental Disomies Associated with Abnormal Phenotypes | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | uniparental disomy (UPD) | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | allele-typing | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | genotyping | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Rh-phenotypic mosaicism | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Silver-Russell syndrome | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | intrauterine growth retardation | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | mechanis | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | departmental bulletin paper | |||||
著者 |
Miyoshi, Osamu
× Miyoshi, Osamu |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Results of a molecular-genetic study on the mechanism of uniparental disomy (UPD) in three individuals are reported. Case 1 was a physically normal adult whose Rh blood-type showed mosaicism of two phenotypes, D+ (or D/D genotype) and D- (or d/d genotype), while his father and mother were a D/d heterozygote and a D/D homozygote respectively. Allele-typing of his peripheral blood leukocytes and buccal membrane cells using polymorphic DNA markers on chromosome 1 revealed both paternal and maternal alleles, but demonstrated paternal uniparental transmissions of alleles in the monoclonal B-lymphocytes and in hair-root cells from various body regions. The results indicate that he had two cell lines each with paternal UPD1 and maternal UPD1. Only a plausible mechanism for the mosaicism includes abnormal segregation at first mitosis, where both chromatids of each homologs 1 migrated together to the same direction, resulting in two daughter cells having D/D and d/d genotypes. This sort of cell division has hitherto been undescribed in man. Case 2 was a Silver-Russell syndrome patient with a mosaic 46, XX | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 47, XX, +r (7) karyotype. Allele-typing with chromosome 7 markers revealed that she inherited maternal uniparental alleles at telomeric regions of the chromosome but biparental alleles at the centromeric region, the result indicating that the two normal chromosomes 7 were of maternal UPD and the ring chromosome 7 was of paternal origin. A likely mechanism for her UPD7 is monosomy duplication, followed by somatic loss of the ring chromosome. The finding also indicates that the putative SRS locus can be ruled out from the centromeric region, 7p13-qll. Case 3 had intrauterine growth retardation and a 45, XY, i (14) karyotype. Alleletyping revealed maternal uniparental transmissions of alleles at both centromeric and telomeric regions of chromosome 14, but showed biparental alleles at other regions. The results indicate that the isochromosome was of maternal UPD and may have arisen through gametic complementation mechanism. | |||||
書誌情報 |
Acta medica Nagasakiensia 巻 43, 号 3-4, p. 19-25, 発行日 1998-12-16 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 00016055 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00508430 | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
sortkey | ||||||
P00019-P00025 | ||||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Acta medica Nagasakiensia. 1998, 43(3-4), p.19-25 |