DSpace university logo mark
詳細検索
Japanese | English 

NAOSITE : Nagasaki University's Academic Output SITE > 030 医学部 > 030 紀要 > Acta Medica Nagasakiensia > Volume 43, No. 3-4 >

Mechanisms for the Occurrence of Three Uniparental Disomies Associated with Abnormal Phenotypes


ファイル 記述 サイズフォーマット
acta43_03_03_t.pdf764.5 kBAdobe PDF本文ファイル

タイトル: Mechanisms for the Occurrence of Three Uniparental Disomies Associated with Abnormal Phenotypes
著者: Miyoshi, Osamu
発行日: 1998年12月16日
引用: Acta medica Nagasakiensia. 1998, 43(3-4), p.19-25
抄録: 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 / 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.
キーワード: uniparental disomy (UPD) / allele-typing / genotyping / Rh-phenotypic mosaicism / Silver-Russell syndrome / intrauterine growth retardation / mechanis
URI: http://hdl.handle.net/10069/16112
ISSN: 00016055
資料タイプ: Departmental Bulletin Paper
原稿種類: publisher
出現コレクション:Volume 43, No. 3-4

引用URI : http://hdl.handle.net/10069/16112

このリポジトリに保管されている文献はすべて著作権により保護されています。
印刷やダウンロード等データの複製は、調査研究・教育または学習を目的とする場合に限定されます。

 

Valid XHTML 1.0! Copyright © 2006-2015 長崎大学附属図書館 - お問い合わせ Powerd by DSpace