A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family

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概要

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• 長崎大学学位論文 学位記番号:博（医歯薬）甲第153号 博士（医学）学位授与年月日:平成20年3月19日Hereditary congenital ptosis (PTOS) is defined as drooping of the upper eyelid without any other accompanying symptoms and distinguished from syndromic blepharoptosis.Two previous linkage analyses assigned a PTOS locus (PTOS1) to 1p32-p34.1 and another (PTOS2) to Xq24-q27.1. In addition, in a sporadic case with a balanced chromosomal translocation t(1;8)(p34.3;q21.12), the ZFHX4 (zinc finger homeodomain 4) gene was found to be disrupted at the 8q21.12 breakpoint, but there was no gene at the 1p34.3 breakpoint, suggesting the existence of the third PTOS locus (PTOS1) at 8q21.12. We carried out a genome-wide linkage analysis in a Japanese PTOS family and calculated two-point and multipoint LOD scores with reduced penetrance. Haplotype analysis gave three candidate disease-responsible regions, i.e., 8q21.11-q22.1, 12q24.32-q24.33 and 14q21.1-q23.2. Although the family size is too small to define one of them, 8q21.11-q22.1 is a likely candidate region, because it contains the previously reported translocation breakpoint above. We thus performed mutation, Southern-blot and methylation analyses of ZFHX4, but could not find any disease specific change in the family. Nevertheless, our data may support the localization of PTOS1.

• Springer Japanの論文
• 2008-01-01

著者

• Kishino T

  Department Of Pediatrics Nagasaki University School Of Medicine

• Kondoh Tatsuro

  長崎大学 医学部小児科

• Kondoh Tatsuro

  長崎大学 看

• Kondoh Tatsuro

  長崎大学 医歯薬学研究科人類遺伝学

• Kondoh Tatsuro

  東北大学 医学部遺伝病学分野

• Yoshiura Koh-ichiro

  長崎大学 医歯薬学総合研究科人類遺伝学

• Yoshiura Koh‐ichiro

  Jst‐sorst Kawaguchi Jpn

• Niikawa Norio

  長崎大学 医歯薬学総合研究科人類遺伝学

• Niikawa N

  The Research Institute Of Personalized Health Sciences Health Sciences University Of Hokkaido

• Nakano Motoi

  Division Of Plastic And Reconstructive Surgery Nagasaki University Graduate School Of Biomedical Sci

• Yoshimura Shuichiro

  長崎大学 医歯薬学総合研究科人類遺伝学

• Kondo Shinji

  Division Of Functional Genomics Center For Frontier Life Sciences Nagasaki University

• Kondoh Shinji

  長崎大学 大学院生物医学科学

• HIRANO Akiyoshi

  Division of Plastic and Reconstructive Surgery, Nagasaki University Graduate School of Biomedical Sc

• KISHINO Tatsuya

  Division of Functional Genomics, Center for Frontier Life Sciences, Nagasaki University

• YOSHIURA Koh-ichiro

  Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences

• NAKASHIMA Mitsuko

  Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences

• KONDOH Shinji

  Division of Functional Genomics, Center for Frontier Life Sciences, Nagasaki University

• MIWA Nobutomo

  Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences

• NIIKAWA Norio

  The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido

• Miwa Nobutomo

  Department Of Human Genetics Nagasaki University Graduate School Of Biomedical Sciences

• Kudo T

  Department Of Medical Genetics Tohoku University School Of Medicine

• Miyake Noriko

  Department Of Medicine (genetics) Children's Hospital Boston

• Kudo Takayuki

  Department Of Otorhinolaryngology Tohoku University School Of Medicine

• Hirano Akiyoshi

  Division Of Plastic And Reconstructive Surgery Department Of Developmental And Reconstructive Medici

• Kayashima Tomohiko

  Department Of Human Genetics Nagasaki University School Of Medicine

• Niikawa Norio

  The Research Institute Of Personalized Health Sciences Health Sciences University Of Hokkaido

• Tashiro Kasumi

  Department Of Pediatrics Nagasaki University School Of Medicine

• Yoshiura Koh-ichiro

  Department Of Human Genetics Nagasaki University Graduate School Of Biomedical Sciences

• Nakashima Mitsuko

  Department Of Human Genetics Nagasaki University Graduate School Of Biomedical Sciences

• Kondoh Tatsuro

  Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences

• Hirano Akiyoshi

  Division Of Plastic And Reconstructive Surgery Nagasaki University Graduate School Of Biomedical Sci

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