Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome
| Autor: | Ken McElreavey, Lionel Dessolle, Jacqueline Mandelbaum, Célia Ravel, Emile Daraï, Diana Lorenço, Jean Pierre Siffroi |
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| Rok vydání: | 2009 |
| Předmět: |
DNA Mutational Analysis
medicine.disease_cause Polymorphism Single Nucleotide Wnt-5a Protein Wnt4 Protein Proto-Oncogene Proteins medicine Humans Coding region Gene family Amenorrhea Mullerian Ducts Gene Fallopian Tubes Genetics Mutation business.industry Uterus Wnt signaling pathway Obstetrics and Gynecology Syndrome Wnt Proteins genomic DNA WNT7A Reproductive Medicine Vagina Female business |
| Zdroj: | Fertility and Sterility. 91:1604-1607 |
| ISSN: | 0015-0282 |
| DOI: | 10.1016/j.fertnstert.2008.12.006 |
| Popis: | The aim of this study is to determine if Müllerian agenesis has a genetic basis linked to the WNT genes. Genomic DNA analyses for mutations in the coding sequences of four members of this family in a series of 11 women with Mayer-Rokitansky-Kuster-Hauser syndrome found four variants in the coding sequence of these genes, but causal mutations were not observed. This supports the hypothesis that mutations in the coding sequence of WNT4, WNT5A, WNT7A, and WNT9B are not responsible for the Mayer-Rokitansky-Kuster-Hauser syndrome. |
| Databáze: | OpenAIRE |
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