Cleft lip with or without cleft palate (CL+-P) is a major health problem, afflicting 1 in every 500-1000 newborn babies world wide; the etiology remains unclear. For CL+-P, Orientals are at higher risk than Caucasians or Blacks. Although some studies have been reported from Japan, they are analytically quite limited and most inconclusive. The need to perform genetic hypothesis testing with various Asian populations, including Japan and China, remains. We propose to study the genetic etiology and other factors contributing to or associated with CL=-P in the population of shanghai, China. Several specific aims will be addressed: 1) Data regarding the outcome of birth (CL+-P or not) between 1982 and 1989 will be collected from 22 hospitals in Shanghai; these data will permit analysis of incidence as well as sex, season of birth, and parental age effects. 2) Family histories will be obtained from approximately 2000 CL+-P probands operated on at the 9th Surgical Hospital (1956-1983); these data will permit study of birth order effects and utilization of a variety of segregation analyses to test for single major gene inheritance, multifactorial inheritance, mixed inheritance, etc. 3) Data from the 2000 CL+-P probands and their families regarding quantitative dermatoglyphics and other bilateral anthropometric measurements will be used to assess the significance of fluctuating asymmetry. All data will be collected by the co-investigator in Shanghai and transported to Los Angeles, where it will be appropriately assembled in computer files and analyzed by the principle and co-investigators at USC and UCLA respectively. The answers to be gained from this study are essential to the effective genetic counseling of Oriental families as well as to prevention strategies in this racial group. In addition, this study will provide answers to questions about CL+-P etiology in all races and should raise new ones to be studied at a later date, particularly regarding genetic heterogeneity and developmental instability.
| Ray, A K; Field, L L; 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 52:1006-11 |
