Molecular Genetic Analyses of Five Vietnamese Patients with Spinal Musucular Atrophy

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概要

• 論文の詳細を見る

• Most patients with spinal muscular atrophy (SMA) have been reported to showhomozygous deletion of the gene responsible for SMA, SMN1. However, whether SMApatients with homozygous deletion of the gene exist in Southeast Asian countries,including Vietnam, remains to be determined, because molecular genetic analyses ofSMA patients from these countries have not been reported. In this preliminary study,we analyzed five Vietnamese SMA patients and found that SMN1 gene exons 7 and 8were completely absent in one of them, a 6-month-old girl with hypotonic muscles.Thus, homozygous deletion of the gene can be a cause of SMA in Vietnam, althoughother genetic abnormalities should be considered as etiological factors in many cases.In conclusion, we identified a homozygous deletion of the SMN1 gene in a VietnameseSMA patient. Since the number of the patients analyzed in this study was very limited,it is too early to determine whether homozygous deletion of the gene is not a main causeof SMA in Vietnam.

• 神戸大学の論文

著者

• Hoan Nguyen

  Department Of Endocrinology Metabolism And Genetics National Institute Of Pediatrics

• THAO Bui

  Department of Endocrinology-Genetics-Metabolism, National Hospital of Pediatrics

• TAKESHIMA Yasuhiro

  Division of Molecular Medicine, Department of International and Environmental Medical Science

• MATSUO Masafumi

  Division of Molecular Medicine, Department of International and Environmental Medical Science

• DAO Nguyen

  Institute of Biotechnology, National Center of Natural Science and Technology

• Khanh Tran

  Division of Pediatrics, Kobe University Gradeate School of Medicine

• Harada Yosuke

  Division of Public Health, Department of Environmental Health and Safety

• Nishio Hisahide

  Division of Public Health, Department of Environmental Health and Safety

• Dao Nguyen

  Institute Of Biotechnology National Center For Natural Science And Technology

• Nguyen Thi

  神戸大学 医学部保健学科検査技術科学

• Dao Nguyen

  神戸大学 医系研究小児科

• KHANH Tran

  Institute of Biotechnology, National Center of Natural Science and Technology

• Thao Bui

  Department Of Endocrinology-genetics-metabolism National Hospital Of Pediatrics

• Thao Bui

  神戸大学医学部附属医学研究国際交流センター

• Dao Nguyen

  Institue Of Biotechnology Vietnamese Academy Of Science And Technology

• Khanh Tran

  Division Of Pediatrics Kobe University Gradeate School Of Medicine

• Hoan Nguyen

  神戸大学 医系研究小児科

• Harada Y

  Department Of Public Health Kobe University Graduate School Of Medicine

• Harada Yosuke

  神戸大学 医系研究小児科

• Takeshima Yasuhiro

  Division Of Genetics International Center For Medical Research Kobe University School Of Medicine

• Nishio Hisahide

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Nishio Hisahide

  Department Of Pubic Health And Genetic Epidemiology Kobe University Graduate School Of Medicine

• Nishio H

  Department Of Public Health Kobe University Graduate School Of Medicine

• Mizutori Masakazu

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Matsuo Masafumi

  Division Of Genetics Icmr Kobe University

• Yamasaki Takemi

  Hyogo Prefectural Children's Hospital

• Takeshima Y

  Hyogo Prefectural Children's Hospital

• Takeshima Yasuhiro

  神戸大学 医学研究科小児科学

• NISHIO Hisahide

  Division of Epidemiology, Kobe University Graduate School of Medicine

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