Characterization of polymorphic markers in the von Willebrand factor gene and pseudogene
| Autor: | Cristina Legnani, Francesco Conconi, Giovanna Marchetti, V. DeRosa, Francesco Bernardi, Donato Gemmati, Alessandra Casonato, Antonio Girolami, P. Patracchini |
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| Rok vydání: | 1990 |
| Předmět: |
Genetic Markers
Male Linkage disequilibrium Pseudogene Biology Von Willebrand factor hemic and lymphatic diseases Complementary DNA von Willebrand Factor Von Willebrand disease medicine Humans Genetics Hemostasis Polymorphism Genetic Hematology medicine.disease Molecular biology Pedigree Blotting Southern Genes Genetic marker Chromosomal region biology.protein Female Restriction fragment length polymorphism Polymorphism Restriction Fragment Length Pseudogenes |
| Zdroj: | British Journal of Haematology. 74:282-289 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1111/j.1365-2141.1990.tb02584.x |
| Popis: | Summary Three TaqI restriction fragment length polymorphisms (RFLP) detected by the central portion of von Willebrand factor cDNA, which recognizes the true gene and in addition pseudogenic sequences, were characterized and mapped. Small cDNA fragments which hybridized with DNA from families with von Willebrand disease were used. Two of the RFLP, recognized by 1.7 and 0.45 kb cDNA fragments, are not in linkage either with von Willebrand disease or with RFLP located in the von Willebrand factor (vWF) gene, which indicates their pseudogenic location. These markers located in 22q11, near to the bcr gene, provide new tools for the study of several somatic and constitutional alterations affecting this chromosomal region. The third RFLP is recognized by a cDNA fragment corresponding to the N-terminal portion of mature vWF and is localized in the true gene. Since significant linkage disequilibrium with other informative RFLP is not present, this marker contributes to the definition of family haplotypes associated with von Willebrand disease. |
| Databáze: | OpenAIRE |
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