Hidaka K, Ueda N, Hirata I, Watanabe Y, Minatogawa Y, Iuchi I
Department of Biochemistry, Kawasaki Medical School, Kurashiki, Japan.
J Hum Genet. 1999;44(1):69-72. doi: 10.1007/s100380050111.
Complete deficiency of lactate dehydrogenase (LDH) subunit H was identified in a 41-year-old woman with paralysis of her left lower limb. The propositus had extremely low LDH activity and five of her family members had levels of LDH activity that ranged from lower than normal to normal level. A transversion mutation at codon 171 (CGC-->CCC), resulting in an Arg-->Pro substitution was identified in her DNA sequence. A new NruI restriction site was introduced into the polymerase chain reaction (PCR) product by PCR-primer introduced restriction analysis (PCR-PIRA) using a specific mismatched primer. Digestion with NruI revealed that the propositus and her mother were, respectively, homozygous and heterozygous for this mutation.
在一名41岁左下肢瘫痪的女性中发现了乳酸脱氢酶（LDH）H亚基的完全缺乏。先证者的LDH活性极低，她的五名家庭成员的LDH活性水平从低于正常到正常不等。在她的DNA序列中鉴定出密码子171处的转换突变（CGC→CCC），导致精氨酸→脯氨酸替代。通过使用特定错配引物的PCR引物引入限制性分析（PCR-PIRA），在聚合酶链反应（PCR）产物中引入了一个新的NruI限制性位点。用NruI消化显示，先证者和她的母亲分别是该突变的纯合子和杂合子。
