| Autor: |
Murray, J. C., Nishimura, D. Y., Buetow, K. H., Ardinger, H. H., Spence, M. A., Sparkes, R. S., Falk, R. E., Falk, P. M., Gardner, R. J. M., Harkness, E. M., Glinski, L. P., Pauli, R. M., Nakamura, Y., Green, P. P., Schinzel, A. |
| Jazyk: |
angličtina |
| Rok vydání: |
1990 |
| Předmět: |
|
| Popis: |
Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, hypodontia, or paramedian lower-lip pits. VWS is a well-characterized example of a single-gene abnormality that disturbs normal craniofacial morphogenesis. As a first step in identifying genes involved in human development, we used a candidate-gene-and-region approach to look for a linkage to VWS. Six families with 3 or more generations of affected individuals were studied. Evidence for linkage (theta = 0.02, lod score = 9.09) was found between the renin (REN) gene on 1q and VWS. Other linked loci included CR1, D1S58, and D1S53. The genes for laminin B2 (LAMB2), a basement-membrane protein, and for decay-accelerating factor (DAF) were studied as possible candidate genes on 1q. Recombinants between VWS and both LAMB2 and DAF excluded these genes from a causal role in the etiology of VWS for the families studied in this report. Multipoint linkage analysis indicated that the VWS locus was flanked by REN and D1S65 at a lod score of 10.83. This tight linkage with renin and other nearby loci provides a first step in identifying the molecular abnormality underlying this disturbance of human development. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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