Maekawa M, Sudo K, Kitajima M, Matsuura Y, Li S S, Kanno T
Department of Laboratory Medicine, Hamamatsu University School of Medicine, Japan.
Hum Genet. 1993 Jun;91(5):423-6. doi: 10.1007/BF00217765.
An electrophoretic variant of the lactate dehydrogenase (LDH)-B(H) subunit was discovered in a patient with diabetes mellitus. His LDH activity in serum was slightly lower than normal and the LDH isozyme pattern showed an abnormal migration indicating an LDH-B subunit variant of the fast type. The LDH containing the variant subunit revealed a decreased heat stability. DNA analysis of the variant allele detected a base substitution, an A to G transition, at codon 6 (AAA-->GAA). The mutation resulted in the replacement of a lysine by a glutamic acid (K6E). The change may cause the heat instability and affect the net charge of the variant subunit, resulting in an electrophoretic LDH-B subunit variant of the fast type.
在一名糖尿病患者中发现了乳酸脱氢酶（LDH）-B（H）亚基的一种电泳变体。他血清中的LDH活性略低于正常水平，LDH同工酶谱显示出异常迁移，表明是快速型的LDH-B亚基变体。含有变体亚基的LDH热稳定性降低。对变体等位基因的DNA分析检测到密码子6处的碱基替换，即A到G的转换（AAA→GAA）。该突变导致赖氨酸被谷氨酸取代（K6E）。这种变化可能导致热不稳定性并影响变体亚基的净电荷，从而产生快速型的电泳LDH-B亚基变体。
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