1. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans
- Author
-
Lidral, Andrew C., Romitti, Paul A., Basart, Ann M., Doetschman, Thomas, Leysens, Nancy J., Daack-Hirsch, Sandra, Semina, Elena V., Johnson, Lisa R., Machida, Junichiro, Burds, Aurora, Parnell, Timothy, Ruberstein, John L.R., and Murray, Jeffrey C.
- Subjects
Chromosome mapping -- Usage ,Genetic disorders -- Research ,Cleft lip -- Genetic aspects ,Cleft palate -- Genetic aspects ,Linkage (Genetics) -- Usage ,Biological sciences - Abstract
Nonsyndromic cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO) are representative of complex genetic traits. Disease loci of CP/P and CPO can be hypothesized to be identified by a candidate-gene linkage-disequilibrium (LD) strategy. Candidate genes for clefting have been screened for LD with either CL/P or CPO in a population mainly Caucasian. Both case-control- and nuclear-family-based approaches were used. No common mutations were found in the coding regions in a mutation search in certain genes in 69 CPO patients and in a group within the larger group of CL/P patients. Several rare variants of MSX1 and TGFB3 were found. Results are a foundation for further research.
- Published
- 1998