Five New Polymorphisms in the Complement C7 Gene and Their Association with C7 Deficiency
| Autor: | B A Fernie, M. J. Hobart |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Genetic Markers
Molecular Sequence Data Immunology Biology medicine.disease_cause Polymerase Chain Reaction Loss of heterozygosity Exon Polymorphism (computer science) Ethnicity Genetics medicine Humans Gene Allele frequency Alleles Genetics (clinical) Mutation Polymorphism Genetic Base Sequence Haplotype Intron Molecular biology Complement C7 Haplotypes |
| Zdroj: | Experimental and Clinical Immunogenetics. 16:150-161 |
| ISSN: | 1421-9948 0254-9670 |
| DOI: | 10.1159/000019107 |
| Popis: | Five new polymorphisms in the C7 gene are described: 2 in intron 1, and 1 each in introns 7, 8 and 15. Four of these are single nucleotide exchanges, while the fifth is a T insertion at 10 sequential Ts. Allele frequency data are presented for intervening sequence (IVS)1+ 55 in 6 normal population groups. We present new and updated data in these populations on a previously described C7 polymorphism in exon 13 (cDNA 1792 A/T). We also report the extended haplotypes associated with C7 deficiency for which marker investigation is a useful, and in some cases vital, adjunct to the identification of the gene defects. Almost without exception, a particular haplotype is associated with a particular mutation causing the deficiency state. Haplotyping is especially useful where polymerase chain reaction failure on one chromosome could be a cause for difficulties in detecting a molecular defect due to heterozygosity for large deletions or unidentified variations at the locations of the primers. |
| Databáze: | OpenAIRE |
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