Slow 型乳酸脱水素酵素B(H)サブユニットバリアントの遺伝子解析

• 前川 真人

• 須藤 加代子

• 藤田 清貴

• 吉岡 尚文

• 櫻林 郁之介

• 李 水龍

• 菅野 剛史

抄録

slow type of an electrophoretic variant of lactate dehydrogenase (LDH)-B(H) subunit was analyzed for genetic mutation. DNA analysis of the variant alleles detected a base substitution, an A to T transition at codon 320 (GAT→GTT). The mutation resulted in the replacement of an aspartic acid by valine (D 320V), and in a change of electrophoretic charge. The change may cause the net charge of the variant subunit resulting in an electrophoretic B subunit variant of the slow type. The missense mutation created a new restriction site GTNAC for endonuclease Mae III in exon 7 of the LDH-B mutant gene. Thus, we can easily detect and confirm the missense mutation.

収録刊行物

• 生物物理化学

  生物物理化学 38 (1), 25-29, 1994-02-15

  日本電気泳動学会

キーワード

• lactate dehydrogenase
• electrophoretic variant
• single strand conformation
• olymorphism
• restriction enzyme digestion.

詳細情報

• CRID: 1571698602631524480
• NII論文ID: 120005314230
• ISSN: 00319082
• Web Site: http://hdl.handle.net/10271/2445
• 本文言語コード: ja
• データソース種別:
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