Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan
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- 作者：Keiichi Haraa ; b ; ; Go Tajimab ; isleofmaple@me.com" class="auth_mail" title="E-mail the corresponding author ; Satoshi Okadab ; Miyuki Tsumurab ; Reiko Kagawab ; Kenichiro Shiraoc ; Yoshinori Ohnod ; Shin'ichiro Yasunagae ; Motoaki Ohtsubof ; Ikue Hatag ; Nobuo Sakurah ; Yosuke Shigematsui ; Yoshihiro Takiharad ; takihara@hiroshima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author ; Masao Kobayashib
- 关键词：MCAD deficiency ; Japanese ; Newborn screening ; Novel mutation ; Allele-specific expression ; Enzyme activity
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：May 2016
- 年：2016
- 卷：118
- 期：1
- 页码：9-14
- 全文大小：529 K
文摘
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MCAD mutations of Japanese patients are quite different from those of Caucasians.
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Their allele-specific activities are compared with Caucasian common mutations.
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985A > G and 199C > T can be standards to judge novel mutations in newborn screening.
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MCAD activities in lymphocytes correlate well with allele-specific activities.
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Screening of non-Caucasian newborns requires careful genetic and enzymatic study.