https://scholars.lib.ntu.edu.tw/handle/123456789/453053
標題: | Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome | 作者: | Shaw S.-W. Chen C.-P. Cheng P.-J. Wang T.-H. Hou J.-W. Lin C.-T. Chang S.-D. HSIAO-LIN HWA Lin J.-L. Chao A.-S. Soong Y.-K. FON-JOU HSIEH |
公開日期: | 2008 | 卷: | 53 | 期: | 2 | 起(迄)頁: | 136-143 | 來源出版物: | Journal of Human Genetics | 摘要: | Only 4% of Down syndrome (DS) cases have a Robertsonian translocation (ROB). The aim of this study was to define the possible breakage area in 21p where ROB occurs. We prospectively and consecutively collected ten cases ROB DS from three medical centers. Of the ten DS children, six were de novo (60%), and four were due to paternal or maternal inheritance (40%). They consisted of four der(21q;21q), four der(14q;21q), one der(13q;21q), and one der(21q;22q). The origin of the extra chromosome 21q was maternal in five of six de novo ROB and paternal in one case. All four der(21;21) ROB DS were an isochromosome. The result of gene dosage change by real-time quantitative polymerase chain reaction (PCR) was compatible with array-comparative genomic hybridization in one case. We further used real-time PCR to detect the copy number of TPTE and BAGE2 located on 21p11 and SAMSN1 on 21q11. The ratio of copy number in 21p:21q was 1:3 in der(21q;21q) but 2:3 in der(13q;21q), der(14q;21q), and der(21q;22q). Our preliminary results demonstrated the critical breakpoint of chromosome 21 involving ROB might lie between BAGE2 and the centromere, located from 10.1 to 12.3 Mb. ? 2007 The Japan Society of Human Genetics and Springer. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/453053 | DOI: | 10.1007/s10038-007-0229-z | SDG/關鍵字: | article; bage2 gene; chromosome analysis; clinical article; controlled study; DNA hybridization; Down syndrome; female; gene; genetic analysis; human; image analysis; inheritance; male; reverse transcription polymerase chain reaction; Robertsonian chromosome translocation; tpte gene; Adaptor Proteins, Vesicular Transport; Adult; Antigens, Neoplasm; Child; Child, Preschool; Chromosome Breakage; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 14; Chromosomes, Human, Pair 21; Down Syndrome; Female; Gene Dosage; Genetic Predisposition to Disease; Genome, Human; Humans; Infant; Male; Membrane Proteins; Nucleic Acid Hybridization; Polymerase Chain Reaction; Prospective Studies; PTEN Phosphohydrolase; RNA, Messenger; Translocation, Genetic; Robertsonia |
顯示於: | 法醫學科所 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。