New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles
| Autor: | Constantinides, Rolandos, Xenophontos, Stavroulla L., Neophytou, Pavlos, Nomura, Shinsuke, Pierides, Alkis M., Constantinou-Deltas, Constantinos D. |
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| Přispěvatelé: | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] |
| Rok vydání: | 1997 |
| Předmět: |
TRPP Cation Channels
protein polymorphism Biology gene frequency Polymerase Chain Reaction Loss of heterozygosity ethnic group Evolution Molecular genetic linkage Gene Frequency Genetic linkage Genetics heterozygosity human exon Amino Acid Sequence Allele Allele frequency Genetics (clinical) Alleles DNA Primers Alanine Polymorphism Genetic PKD1 Base Sequence Greece Haplotype article Proteins Valine DNA Exons Polycystic Kidney Autosomal Dominant Molecular biology amino acid sequence kidney polycystic disease priority journal Haplotypes Genetic marker DNA polymorphism Cyprus Restriction fragment length polymorphism amino acid substitution |
| Zdroj: | Human genetics Hum.Genet. |
| ISSN: | 0340-6717 |
| Popis: | The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized in this gene, most of them resulting in premature protein termination. However, mutation analysis is not routinely implemented for family investigations in a clinical setting, because of the large size and complexity of the gene. Instead, genetic linkage analysis using highly polymorphic CA dinucleotide repeats that map around the gene is still the method of choice. Recently, a few intragenic polymorphisms have been described that are also useful for linkage studies. Here, a new diallelic polymorphism is described for amino acid residue 4058, Ala/Val4058, with allelic frequencies of 0.88 and 0.12, respectively, and a heterozygosity of 0.23, in the Greek and Greek-Cypriot populations. Interestingly, this polymorphism and Ala4091-A/G, which has previously been described in Caucasians, were not detected in DNA from 44 Japanese samples tested. This is particularly important when allelic frequencies in a particular population are used for linkage analysis of families of different ethnic origin. Also, observation of the two polymorphisms together as haplotypes suggests that the Ala/Val4058 polymorphism occurred more recently than the establishment of the Ala4091-A/G polymorphism, and specifically on the G allele. 99 644 647 Cited By :6 |
| Databáze: | OpenAIRE |
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