| Autor: |
Hidaka, K., Ueda, Naoki, Hirata, Ikuo, Watanabe, Yoko, Minatogawa, Yosuke, Iuchi, Iwao |
| Předmět: |
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| Zdroj: |
Journal of Human Genetics; 1999, Vol. 44 Issue 1, p69, 4p |
| Abstrakt: |
Abstract 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 arrow right CCC), resulting in an Arg arrow right 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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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