Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1992 Sep;51(3):648–653.

Cleft lip with or without cleft palate in Shanghai, China: evidence for an autosomal major locus.

M L Marazita 1, D N Hu 1, M A Spence 1, Y E Liu 1, M Melnick 1
PMCID: PMC1682698  PMID: 1307687

Abstract

Orientals are at higher risk for cleft lip with or without cleft palate (CL +/- P) than Caucasians or blacks. We collected demographic and family data to study factors contributing to the etiology of CL +/- P in Shanghai. The birth incidence of nonsyndromic CL +/- P (Shanghai 1980-87) was 1.11/1,000, with a male/female ratio of 1.42. Almost 2,000 nonsyndromic CL +/- P probands were ascertained from individuals operated on during the years 1956-83 at surgical hospitals in Shanghai. Detailed family histories and medical examinations were obtained for the probands and all available family members. Genetic analyses of the probands' families were performed under the mixed model with major locus (ML) and multifactorial (MFT) components. The hypotheses of no familial transmission and of MFT alone could be rejected. Of the ML models, the autosomal recessive was significantly most likely and was assumed for testing three complex hypotheses: (1) ML and sporadics; (2) ML and MFT; (3) ML, MFT, and sporadics. None of the complex models were more likely than the ML alone model. In conclusion, the best-fitting, most parsimonious model for CL +/- P in Shanghai was that of an autosomal recessive major locus.

Full text

PDF
650

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Ardinger H. H., Buetow K. H., Bell G. I., Bardach J., VanDemark D. R., Murray J. C. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet. 1989 Sep;45(3):348–353. [PMC free article] [PubMed] [Google Scholar]
  2. Boo-Chai K. An ancient Chinese text on a cleft lip. Plast Reconstr Surg. 1966 Aug;38(2):89–91. doi: 10.1097/00006534-196608000-00001. [DOI] [PubMed] [Google Scholar]
  3. Carter C. O. Genetics of common single malformations. Br Med Bull. 1976 Jan;32(1):21–26. doi: 10.1093/oxfordjournals.bmb.a071318. [DOI] [PubMed] [Google Scholar]
  4. Chenevix-Trench G., Jones K., Green A., Martin N. Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate. Am J Hum Genet. 1991 May;48(5):1012–1013. [PMC free article] [PubMed] [Google Scholar]
  5. Chung C. S., Bixler D., Watanabe T., Koguchi H., Fogh-Andersen P. Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. Am J Hum Genet. 1986 Nov;39(5):603–611. [PMC free article] [PubMed] [Google Scholar]
  6. Chung C. S., Ching G. H., Morton N. E. A genetic study of cleft lip and palate in Hawaii. II. Complex segregation analysis and genetic risks. Am J Hum Genet. 1974 Mar;26(2):177–188. [PMC free article] [PubMed] [Google Scholar]
  7. Demenais F., Bonaïti-Pellié C., Briard M. L., Feingold J. An epidemiological and genetic study of facial clefting in France. II Segregation analysis. J Med Genet. 1984 Dec;21(6):436–440. doi: 10.1136/jmg.21.6.436. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Eiberg H., Bixler D., Nielsen L. S., Conneally P. M., Mohr J. Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet. 1987 Aug;32(2):129–132. doi: 10.1111/j.1399-0004.1987.tb03340.x. [DOI] [PubMed] [Google Scholar]
  9. Gladstien K., Lange K., Spence M. A. A goodness-of-fit test for the polygenic threshold model: application to pyloric stenosis. Am J Med Genet. 1978;2(1):7–13. doi: 10.1002/ajmg.1320020103. [DOI] [PubMed] [Google Scholar]
  10. Hecht J. T., Wang Y. P., Blanton S. H., Michels V. V., Daiger S. P. Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. Am J Hum Genet. 1991 Sep;49(3):682–686. [PMC free article] [PubMed] [Google Scholar]
  11. Hecht J. T., Yang P., Michels V. V., Buetow K. H. Complex segregation analysis of nonsyndromic cleft lip and palate. Am J Hum Genet. 1991 Sep;49(3):674–681. [PMC free article] [PubMed] [Google Scholar]
  12. Hu D. N., Li J. H., Chen H. Y., Chang H. S., Wu B. X., Lu Z. K., Wang D. Z., Liu X. G. Genetics of cleft lip and cleft palate in China. Am J Hum Genet. 1982 Nov;34(6):999–1002. [PMC free article] [PubMed] [Google Scholar]
  13. Iselius L., Morton N. E. Transmission probabilities are not correctly implemented in the computer program POINTER. Am J Hum Genet. 1991 Aug;49(2):459–459. [PMC free article] [PubMed] [Google Scholar]
  14. Koguchi H. Recurrence rate in offspring and siblings of patients with cleft lip and/or cleft palate. Jinrui Idengaku Zasshi. 1975 Dec;20(3):207–221. [PubMed] [Google Scholar]
  15. Lalouel J. M., Morton N. E. Complex segregation analysis with pointers. Hum Hered. 1981;31(5):312–321. doi: 10.1159/000153231. [DOI] [PubMed] [Google Scholar]
  16. Lalouel J. M., Rao D. C., Morton N. E., Elston R. C. A unified model for complex segregation analysis. Am J Hum Genet. 1983 Sep;35(5):816–826. [PMC free article] [PubMed] [Google Scholar]
  17. Marazita M. L., Goldstein A. M., Smalley S. L., Spence M. A. Cleft lip with or without cleft palate: reanalysis of a three-generation family study from England. Genet Epidemiol. 1986;3(5):335–342. doi: 10.1002/gepi.1370030506. [DOI] [PubMed] [Google Scholar]
  18. Marazita M. L., Spence M. A., Melnick M. Genetic analysis of cleft lip with or without cleft palate in Danish kindreds. Am J Med Genet. 1984 Sep;19(1):9–18. doi: 10.1002/ajmg.1320190104. [DOI] [PubMed] [Google Scholar]
  19. Melnick M., Marazita M. L., Hu D. N. Genetic analysis of cleft lip with or without cleft palate in Chinese kindreds. Am J Med Genet Suppl. 1986;2:183–190. doi: 10.1002/ajmg.1320250622. [DOI] [PubMed] [Google Scholar]
  20. Morton N. E., MacLean C. J. Analysis of family resemblance. 3. Complex segregation of quantitative traits. Am J Hum Genet. 1974 Jul;26(4):489–503. [PMC free article] [PubMed] [Google Scholar]
  21. Nemana L. J., Marazita M. L., Melnick M. Genetic analysis of cleft lip with or without cleft palate in Madras, India. Am J Med Genet. 1992 Jan 1;42(1):5–9. doi: 10.1002/ajmg.1320420103. [DOI] [PubMed] [Google Scholar]
  22. Tanaka K., Fujino H., Fujita Y., Tashiro H., Sanui Y. Cleft lip and palate: Some evidences for the multifactorial trait and estimation of heritability based upon Japanese data. Jinrui Idengaku Zasshi. 1969 Jun;14(1):1–9. [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES