Deletion of the SMN1 and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy

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概要

• 論文の詳細を見る

• The SMN1 and NAIP genes are related to the development of spinal muscularatrophy (SMA), which is characterized by degeneration of motor neurons leading toprogressive muscular weakness and atrophy. The SMN1 gene is homozygously deletedin most SMA patients, and now recognized as a responsible gene for SMA. The NAIPgene is often deleted in the SMA patients with the severest form of SMA, and nowconsidered to be a modifying factor of the severity of SMA. Our previous study of fiveVietnamese SMA patients showed that the SMN1 gene deletion was detected in onepatient, although the NAIP gene deletion was not detected in any patients. In this study,we analyzed 12 Vietnamese SMA patients who were not enrolled in the previous study.The SMN1 gene was homozygously deleted in six out of 12 patients, and the NAIP genedeletion was detected in five patients. Taken together with our previous data, the SMN1gene deletion was detected in seven out of 17 Vietnamese SMA patients and the NAIPgene deletion in five out of 17 Vietnamese SMA patients. These studies suggest that theSMN1 and NAIP gene deletions are not rare in Vietnamese SMA patients. Thus, theconfirmation of SMA-related gene deletion will also be a useful tool for the diagnosis ofSMA in Vietnam.

• 神戸大学の論文

著者

• Hoan Nguyen

  Department Of Endocrinology Metabolism And Genetics National Institute Of Pediatrics

• HONG Dang

  Institute of Biotechnology, Vietnamese Academy of Science and Technology

• DUNG Vu

  Department of Endocrinology, Metabolism and Genetics, National Institute 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

• Bach Nguyen

  Division of Pediatrics, Kobe University Gradeate School of Medicine

• Sadewa Ahmad

  Division of Public Health, Kobe University Gradeate School of Medicine

• Sutomo Retno

  Division of Pediatrics, Kobe University Gradeate School of Medicine

• 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

• Matsuo M

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Dung Vu

  Department Of Endocrinology Metabolism And Genetics National Institute Of Pediatrics

• KHANH Tran

  Institute of Biotechnology, National Center of Natural Science and Technology

• Dung Vu

  神戸大学 医系研究小児科

• Dung Vu

  Department Of Endocrinology Metabolism & Genetics. National Hospital Of Pediatrics

• サデワ アフマド・ハミム

  Department Of Public Health Kobe University Graduate School Of Medicine

• Hong Dang

  Institute Of Biotechnology Vietnamese Academy Of Science And Technology

• 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

• Bach Nguyen

  Division Of Pediatrics Kobe University Gradeate School Of Medicine

• Sutomo Retno

  Department Of Pediatrics Gadjah Mada University School Of Medicine

• Sutomo Retno

  神戸大学 医学系研究科公衆衛生学

• Sadewa Ahmad

  神戸大学 大学院医学系研究科小児

• 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

• Hamim Ahmad

  Department Of Environmental Health And Safety Faculty Of Medicine Kobe University Graduate School Of

• Sutomo Retno

  Department Of Development And Aging Faculty Of Medicine Kobe University Graduate School Of Medicine

• Yagami Tatsurou

  2shionogi Research Laboratories Shionogi & Co. Ltd.

• 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

• Nguyen Thi

  Department Of Marine Botany Institute Of Oceanography Nhatrang

• 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

• Nguyen Duc

  Division of Pediatrics, Kobe University Gradeate School of Medicine

• Ahmad Hamim

  Division of Public Health, Kobe University Gradeate School of Medicine

• Retno Sutomo

  Division of Pediatrics, Kobe University Gradeate School of Medicine

• Tran Van

  Division of Pediatrics, Kobe University Gradeate School of Medicine

• Ngune Thi

  Institute of Biotechnology, National Center for Natural Science and Technology

• Vu Chi

  Department of Endocrinology, Metabolism and Genetics, National Institute of Pediatrics

• Dang Diem

  Institute of Biotechnology, National Center for Natural Science and Technology

• NISHIO Hisahide

  Division of Epidemiology, Kobe University Graduate School of Medicine

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