Prenatal diagnosis of a Japanese family at risk for tay-sachs disease : application of a fluorescent competitive allele-specific polymerase chain reaction (pcr) method
スポンサーリンク
概要
- 論文の詳細を見る
Tay-Sachs disease (TSD) is caused by mutation of the HEXA gene, which results in a deficiency of the alpha-subunit of hexosaminidase A. The major mutation in Japanese TSD is a G-to-T transversion at the 3'-splice site of intron 5. We established a fluorescent competitive allele-specific polymerase chain reaction (FCAS-PCR) method for detection of the mutation and applied it to prenatal diagnosis of a Japanese TSD family. FCAS-PCR distinguished the wild and mutant alleles clearly, with broad ranges in the amount of template DNA, the dNTP concentration, the MgCl2 concentration and the number of PCR cycles. After obtaining ethics committee approval and informed consent from the parents in the index family, chorionic villus sampling was performed. FCAS-PCR analysis using chorionic villus DNA disclosed that the fetus was homozygous for the mutation. To confirm the diagnosis, direct sequencing analysis of the genomic PCR fragment was performed, and showed the same results as those of the FCAS-PCR analysis. FCAS-PCR proved to be helpful for carrier screening and prenatal diagnosis in TSD families in the Japanese population. It would also be a useful DNA-diagnostic method for many other inherited disorders.
- 神戸大学の論文
著者
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Maruo Takeshi
神戸大学 医学系研究科産科婦人科学
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Maruo T
Department Of Obstetrics And Gynecology Kobe University Graduate School Of Medicine
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Maruo T
Kobe Univ. Graduate School Of Medicine Kobe Jpn
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Sumino K
Kobe Univ. Graduate School Of Medicine Jpn
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Sumino Kimiaki
Division Of Public Health Department Of Environmental Health And Safety Kobe University School Of Me
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Matsuo Masafumi
神戸大学医学系研究科
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Lee Myeong
神戸大学医学系研究科
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Ayaki Hitoshi
神戸大学医学系研究科
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Nishio Hisahide
神戸大学医学系研究科
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Maruo Takeshi
神戸大学医学系研究科
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AYAKI Hitoshi
Department of Public Health, Kobe University Graduate School of Medicine
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Tamasu Shogo
神戸大学医学部
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Mizutori Masakazu
神戸大学医学部
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Takeshima Yasuhiro
神戸大学医学部
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Nakamura Hajime
神戸大学医学部
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Sumino Kimiaki
神戸大学医学部
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Nakamura Hajime
Hyogo Prefectural Kobe Children's Hospital
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Nishio Hisahide
Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University
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Nishio Hisahide
Department Of Pubic Health And Genetic Epidemiology Kobe University Graduate School Of Medicine
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Lee Myeong
神戸大学 医学研究科遺伝疫学
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Ayaki H
Department Of Public Health Kobe University Graduate School Of Medicine
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Nakamura H
Hyogo Prefectural Kobe Children's Hospital
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Nishio H
Department Of Public Health Kobe University Graduate School Of Medicine
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Mizutori Masakazu
Department Of Pediatrics Graduate School Of Medicine Kobe University
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Maruo Takeshi
Department Of Obstetrics And Gynecology Kobe University
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Lee Myeong jin
Department Of Public Health Kobe University Graduate School Of Medicine
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Nakamura Hajime
神戸大学医学系研究科
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Yamasaki Takemi
Hyogo Prefectural Children's Hospital
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Takeshima Y
Hyogo Prefectural Children's Hospital
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Nakamura Hajime
Department Of Development And Aging Faculty Of Medicine Kobe University Graduate School Of Medicine
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