Two commonly occurring nucleotide base substitutions in Chinese G6PD variants
| Autor: | Daniel Tsun-Yee Chiu, Elaine Louie, Bertram H. Lubin, Chuan-Su Du, Lin Zuo, Lotung Chao, Ellson Y. Chen, Tsan Z. Liu |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
China
Base pair Molecular Sequence Data Biophysics Glucosephosphate Dehydrogenase Biology Polymerase Chain Reaction Biochemistry Exon chemistry.chemical_compound Polymorphism (computer science) Complementary DNA Genetic variation Nucleotide Molecular Biology chemistry.chemical_classification Genetics Base Sequence Genetic Variation Exons Cell Biology Kinetics Glucosephosphate Dehydrogenase Deficiency Enzyme Oligodeoxyribonucleotides chemistry DNA |
| Zdroj: | Biochemical and Biophysical Research Communications. 180:988-993 |
| ISSN: | 0006-291X |
| DOI: | 10.1016/s0006-291x(05)81163-5 |
| Popis: | Using a direct PCR sequencing technique, we have identified two DNA base substitutions in 8 different biochemical G6PD variants of Chinese origin. Neither one of these abnormalities has been reported in other ethnic groups. An abnormality (C1) of G to T substitution at cDNA 1376 causing an amino acid change from Arg to Leu has been found in 3 variants. Another abnormality (C2) of G to A substitution at cDNA 1388 causing an amino acid change from Arg to His has been found in 5 variants. Both C1 and C2 are located in exon 12 of the G6PD gene and are only 12 base pairs apart. However, C1 is associated with a significant increase in the deamino-NADP utilization rate, whereas C2 is not. Taken together, our data suggest that C1 and C2 are very common among Chinese with a G6PD deficiency and exon 12 may define an important functional domain of the human G6PD. |
| Databáze: | OpenAIRE |
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