Hydatidiform mole is a form of gestational trophoblastic disease characterized by absence of embryo and hydropic degeneration of the chorionic villi. The majority of complete hydatidiform moles are sporadic and androgenetic; however, a rare subset has been identified which has a biparental genome. These have been found occasionally to recur in the same woman and, in multiple women in the same family suggesting a genetic defect. A maternal locus for biparental familial moles has been mapped to a 1.1Mb region on 19q13.4. Genotyping of a new family with multiple affected sisters has lead to the narrowing of this interval to 0.65Mb, which contains 30 genes. Screening of these genes led to the discovery of mutations in NALP7 in all affected individuals from four families of different ethnic origin. NALP7 is a member of a family of cytoplasmic proteins known to play a role in inflammation and the innate immune system.
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.100746 |
| Date | January 2006 |
| Creators | Murdoch, Sharlene. |
| Publisher | McGill University |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Format | application/pdf |
| Coverage | Master of Science (Department of Human Genetics.) |
| Rights | © Sharlene Murdoch, 2006 |
| Relation | alephsysno: 002588273, proquestno: AAIMR32640, Theses scanned by UMI/ProQuest. |
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