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

Journal Article · · American Journal of Human Genetics; (United States)
OSTI ID:5031682
 [1]; ;  [2];  [3];  [4]
  1. Virginia Commonwealth Univ., Richmond, VA (United States)
  2. Zhabei Eye Institute, Shanghai (China)
  3. Univ. of California, Los Angeles, CA (United States)
  4. Univ. of Southern California, Los Angeles, CA (United States)

Orientals are at higher risk for cleft lip with our without cleft palate (CL[+-] P) than Caucasians or blacks. The authors 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 analysis of the probands' families were performed under the mixed model with major locus (ML) and multifactorial (MFT) components. The hypothesis 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 hypothesis: (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. 37 refs., 1 tab.

OSTI ID:
5031682
Journal Information:
American Journal of Human Genetics; (United States), Vol. 51:3; ISSN 0002-9297
Country of Publication:
United States
Language:
English