Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common single gene diseases in humans. We have identified a synonymous T to C transition polymorphism in exon 46 of the PKD1 gene (12838T-->C, Pro4209Pro). The polymorphism was present with similar frequencies in ADPKD patients and unaffected individuals. The heterozygosity, determined in 89 Italian individuals, was 0.347. The frequency of the rarer allele was 0.222. This polymorphism is easy to determine as it abolishes a naturally occurring Ddel restriction site. The availability of an additional intragenic marker in the PKD1 gene will improve the accuracy of linkage studies in ADPKD families.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1006/mcpr.1996.0063 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The candidate gene SibHLHA regulates anthocyanin-driven purple pigmentation in Sesamum indicum flowers.
Theor Appl Genet
January 2025
Henan Sesame Research Center, Henan Academy of Agricultural Sciences, Zhengzhou, China.
Anthocyanins not only serve as critical pigments determining floral hues but also play essential roles in attracting insects for pollination, feeding animals and mitigating abiotic stress. However, the molecular mechanisms underlying the regulation of flower color in sesame has not yet been reported. In this study, an F population was constructed by crossing 'Ganzhi 9' (purple-flowered) with 'BS377' (white-flowered).
View Article and Find Full Text PDFIdentification of the Novel HLA-A*01:478 Allele by Next-Generation Sequencing.
HLA
February 2025
Immunology Service, Clinical University Hospital Virgen de la Arrixaca (HCUVA)-biomedical Research Institute of Murcia (IMIB), Murcia, Spain.
HLA-A*01:478, a novel HLA class I allele detected by next-generation sequencing.
View Article and Find Full Text PDFCharacterisation of the Novel HLA-DQB1*03:571 Allele by Next-Generation Sequencing.
HLA
February 2025
Immunology Service, Clinical University Hospital Virgen de la Arrixaca (HCUVA)-Biomedical Research Institute of Murcia (IMIB), Murcia, Spain.
HLA-DQB1*03:571 differs from HLA-DQB1*03:09 by one nucleotide substitution in codon 170 in exon 3.
View Article and Find Full Text PDFResearch note: Detection of IGF2BP2 gene polymorphism associated with growth and reproduction traits of pigeon.
Poult Sci
January 2025
College of Coastal Agricultural Sciences, Guangdong Ocean University, Zhanjiang 524088, China. Electronic address:
The Insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2) gene is closely associated with the diseases, fat deposition, and growth and reproduction traits in animals. Investigations into the relationship between the IGF2BP2 gene polymorphism and growth and reproduction traits provide valuable breeding information for enhancing productivity and economic gains in pigeon. In this study, the single nucleotide polymorphisms (SNPs) in 13 exons and the 3' untranslated region (3'UTR) of the IGF2BP2 gene in 292 female pigeons Tianxiang 1 strain were detected through Sanger sequencing, and their association with pigeons' growth and reproduction traits were explored.
View Article and Find Full Text PDFInvestigation of Genetic Polymorphisms Related GSTM1, GSTT1, GSTP1 Genes and their Association with Radiotherapy Toxicity among Head and Neck Cancer Patients.
Asian Pac J Cancer Prev
January 2025
Department of Molecular Biology & Genetics, Krishna Institute of Allied Sciences, Krishna Vishwa Vidyapeeth "Deemed to be University", Taluka-Karad, Dist- Satara, Pin-415 539, (Maharashtra) India.
Background: In this study we explored the association of polymorphisms of glutathione s transferase gene including GSTM1, GSTT1 and GSTP1 with adverse acute normal tissue reactions resulted from radiotherapy in HNC patients. We assessed the association of GSTM1 and GSTT1 null genotypes and Ile105Val of exon-5 and Ala114Val of exon-6 of GSTP1 gene polymorphisms with the risk of acute skin toxicity reactions after therapeutic radiotherapy in HNC patients.
Methods: Four hundred HNC patients administered with Intensity modulated radiation therapy were enrolled in this study for the evaluation of radiotherapy associated toxicity reactions.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!