Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate

Genomics

Volumn 43, Issue 2, 1997, Pages 216-220

  Scapoli, Luca ^a   Pezzetti, Furio ^a   Carinci, Francesco ^a   Martinelli, Marcella ^a   Carinci, Paolo ^a   Tognon, Mauro ^a,b  

^a UNIVERSITY OF FERRARA   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 6P; CLEFT LIP; CLEFT PALATE; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

EID: 0031571130     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.4798     Document Type: Article

References (43)

1. Beiraghi, S., Foroud, T., Diouhy, S., Bixler, D., Conneally, P.M., Delozier-Blanchet, D., and Hodes, M. S. (1994). Possible localization of a major gene for cleft lip and palate to 4q. Clin. Genet. 46: 255-256.
2. Blanton, S. H., Crowder, E., Malcom, S., Winter, R., Gasser, D. L., Stal, S., Mulliken, J., and Hecth, J. T. (1996). Exclusion of linkage between cleft lip or without cleft palate and marker on chromosome 4 and 6. Am. J. Hum. Genet. 58: 239-241.
3. Bonaiti-Pellie, C., Briand, M. L., Feingold, J., Pavy, B., Psaume, J., Migne-Tufferand, G., and Kaplan, J. (1982). An epidemiological and genetic study of facial clefting in France. I. Epidemiological and frequency in relatives. J. Med. Genet. 11: 374-377.
4. Carinci, F., Pezzetti, F., Scapoli, L., Padula, E., Baciliero, U., Curioni, C., and Tognon, M. (1995). Nonsyndromic cleft lip and palate: Evidence of linkage to microsatellite marker on 6p23. Am. J. Hum. Genet. 56: 337-339.
5. Carter, C. O. (1976). Genetics of common single malformations. Br. Med. Bull. 32: 21-26.
6. Chenevix-Trench, G., Jones, K., Green, A. C., Duffy, D. L., and Martin, N. G. (1992). Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci. Am. J. Hum. Genet. 51: 1377-1385.
7. Chung, C. S., Bixler, D., Watanabe, T., Koguchi, H., and Fogh-Andersen, P. (1986). Segregation analysis of cleft lip with or without cleft palate: A comparison of Danish and Japanese data. Am. J. Hum. Genet. 39: 603-611.
8. Davies, A. F., Stephens, R. J., Olavesen, M. G., Heather, L., Dixon, M. J., Magee, A., Flinter, F., and Ragoussis, J. (1995). Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region. Hum. Mol. Genet. 4: 121-128.
9. De Paepe, A. (1989). Dominantly inherited cleft lip and palate. J. Med. Genet. 26: 794.
10. Donnai, D., Heather, L. J., Sinclair, P., Thakker, Y., Scambler, P., and Dixon, M. J. (1992). Association of autosomal dominant cleft lip palate and translocation 6p23;9q22.3. Clin. Dysmorphol. 1: 89-97.
11. Eiberg, H., Bixler, D., Nielsen, L. S., Conneally, P. M., and Mohr, J. (1987). Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin. Genet. 32: 129-132.
12. Farral, M., and Holder, S. (1992). Familial recurrence-pattern analysis of cleft lip with or without cleft palate. Am. J. Hum. Genet. 50: 270-277.
13. Feng, H., Sassani, R., Bartlett, S. P., Lee, A., Hecht, J. T., Malcom, S., Winter, R. M., Vintiner, G. M., Buetow, K. H., and Gasser, D. L. (1994). Evidence, from family studies, for linkage disequilibrium between TGFA and gene for nonsyndromic cleft lip with or without cleft palate. Am. J. Hum. Genet. 55: 932-936.
14. Fraser, F. C. (1970). The genetics of cleft lip and palate. Am. J. Hum. Genet. 22: 336-352.
15. Gyapay, G., Morissette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Mare, S., Bernardi, G., Lathrop, M., and Weissenbach, J. (1994). The 1993-94 Généthon human genetic linkage map. Nature Genet. 7: 246-249.
16. Hecht, J. T., Yang, P., Michels, V. V., and Buetow, KH. (1991a). Complex segregation analysis of nonsyndromic cleft lip and palate. Am. J. Hum. Genet. 49: 674-681.
17. Hecht, J. T., Wang, Y., Blanton, S. H., Michels, V. V., and Daiger, S. P. (1991b). Cleft lip and palate: No evidence of linkage to transforming growth factor alpha. Am. J. Hum. Genet. 49: 682-686.
18. Hecht, J. T., Wang, Y., Connor, B., Blanton, S. H., and Daiger, S. P. (1993). Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A. Am. J. Hum. Genet. 52: 1230-1233.
19. Higuchi, R. (1989). Simple and rapid preparation of samples for PCR. In "PCR Technology" (H. A. Erlich, Ed.), pp. 31-38, Stockton Press, New York.
20. Jodice, C., Frontali, M., Perischetti, F., Novelletto, A., Pandolfo, M., Spadaro, M., Giunti, P., Schinaia, G., Lulli, P., Malaspina, P., Plasmati, R., Tola, R., Antonelli, A., Di Donato, S., Morocutti, C., Weissenbach, J., Cann, H. M., and Terrenato, L. (1993). The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci. Hum. Mol. Genet. 2: 1383-1387.
21. Korman-Bortolotto, M. H., Farah, L. M. S., Soares, D., Corbani, M., Müller, R., and Adell, A. C. A. (1990). Terminal deletion 6p23: A case report. Am. J. Med. Genet. 37: 475-477.
22. Kurihara, Y., Kurihara, H., Suzuki, H., Kodama, T., Maemura, K., Nagai, R., Oda, H., Kuwaki, T., Cao, W.H., Kamada, N., Jishage, K., Ouchi, Y., Azuma, S., Toyoda, Y., Ishikawa, T., Kumada, M., and Yazaki, Y. (1994). Elevated pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature 368: 703-710.
23. Lathrop, G. M., Lalouel, J. M., Julier, C., and Ott, J. (1984). Strategies for multilocus linkage analysis in human. Proc. Natl. Acad. Sci. USA 81: 3443-3446.
24. Litt, M., and Luty, J. A. (1990). Dinucleotide repeat polymorphism at D6S89. Nucleic Acids Res. 18: 4301.
25. Marazita, M. L., Spence, M. A., and Melnik, M. (1984). Genetic analysis of cleft lip with or without cleft palate in Danish kindreds. Am. J. Med. Genet. 19: 9-18.
26. Marazita, M. L., Spence, M. A., and Melnik, M. (1986). Major gene determination of liability to cleft lip with or without cleft palate: A multiracial view. J. Craniofacial Genet. Dev. Biol. 2(Suppl): 89-97.
27. Marazita, M. L., Hu, D. N., Spence, A., Liu, Y. E., and Melnik, M. (1992). Cleft lip with or without cleft palate in Shanghai, China: Evidence for an autosomal major locus. Am. J. Hum. Genet. 51: 648-653.
28. Mehra, S., and Verma, I. C. (1991). Ecogenetics of congenital craniofacial malformation. [International Committee on the Human Genome] Am. J. Hum. Genet. 49(Suppl): A150.
29. Melnik, M., Bixler, D., Fogh-Anderson, P., and Conneally, P. M. (1980). Cleft +/-cleft palate: An overview of the literature and an analysis of Danish cases born between 1941 and 1968. Am. J. Med. Genet. 6: 83-97.
30. Mitchell, L. E., and Risch, N. (1992). Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: A reanalysis. Am. J. Hum. Genet. 51: 323-332.
31. Ott, J. (1989). Computer-simulation methods in human linkage analysis. Proc. Natl Acad. Sci. USA 86: 4175-4178.
32. Pages, J. C., Drieu, C., Blanché, H., Beckmann, J., and Cann, H. M. (1993). A short tandem repeat polymorphism at the endothelin 1 (EDN1) locus. Hum. Mol. Genet. 2: 90.
33. Polymeropoulos, M. H., Rath, D. S., Xiao, H., and Merril, C. R. (1991). Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A). Nucleic Acids Res. 19: 4306.
34. Ranum, L. P. W., Chung, M. Y., Duvick, L. A., Zoghbi, H. Y., and Orr, H. T. (1991). Dinucleotide repeat polymorphism at the D6S109 locus. Nucleic Acids Res. 19: 1171.
35. Ray, A. K., Field, L. L., and Marazita, M. L. (1993). Nonsyndromic cleft lip with or without cleft palate in West Bengal, India: Evidence for an autosomal major locus. Am. J. Hum. Genet. 52:1006-1011.
36. Stein, J., Mulliken, J. B., Stal, S., Gasser, D. L., Malcom, S., Winter, R., Blanton, S. H., Amos, C., Seemanova, E., and Hecht, J. T. (1995). Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 multigeneration families. Am. J. Hum. Genet. 57: 257-272.
37. Straub, R. E., MacLean, C. J., O'Neill, F. A., Burke, J., Murphy, B., Duke, F., Shinkwin, R., Webb, B. T., Zhang, J., Walsh, D., and Kendler, K. S. (1995). A potential vulnerability locus for schizophrenia on chromosome 6p24-22: Evidence for genetic heterogeneity. Nature Genet. 11: 287-293.
38. Temple, K., Calvert, M., Flint, D., Thompson, E., and Pembrey, M. (1989). Dominantly inherited cleft lip and palate in two families. J. Med. Genet. 26: 386-389.
39. Terwillinger, J. D., and Ott, J. (1994). "Handbook of Human Genetic Linkage," pp. 224-225, Johns Hopkins Univ. Press, Baltimore/ London.
40. Van Dyke, D. C., Goldman, A. S., Spielman, R. S., Zmijewski, C. M., and Oka, S. W. (1980). Segregation of HLA in sibs with cleft lip or cleft lip and palate: Evidence against linkage. Cleft Palate J. 17: 189-193.
41. Vintiner, G. M., Lo, K. K., Holder, S. E., Minter, R. M., and Malcom, S. (1993). Exclusion of candidate genes from a role in cleft lip with or without cleft palate: Linkage and association studies. J. Med. Genet. 30: 773-778.
42. Watanabe, T., Ohishi, M., and Tashiro, H. (1984). Population and family studies of HLA in Japanese with cleft lip and palate. Cleft Palate J. 21: 293-300.
43. Weeks, D. E., Ott, J., and Lathrop, G. M. (1990). SLINK: A general simulation program for linkage analysis. Am. J. Hum. Genet. 47(Suppl): A204.