CLINICAL AND MOLECULAR GENETIC STUDY ON CLEFT LIP AND/OR CLEFT PALATE PATIENTS IN JAPAN

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Cleft lip and/or cleft palate (CL/P) is one of the frequent craniofacial birth defects, affecting 1/500 Japanese. It has been suggested that most cases of nonsyndromic CL/P are caused by the combination of genetic and environmental factors as described by the multifactorial threshold model. Recently, the major locus model best explains the observed recurrence of CL/P in Caucasian families by complex segregation analysis and many other groups are trying to identifiy the major locus responsible for this disorder. In 1989, Arginger et al.reported a significant association was observed between restriction fragment length polymorphisms (RFLP) at transforming growth factor alpha (TGFalpha) locus and the occurence of clefting, suggesting that either the TGF alpha gene itself or DNA sequence in an adjacent region contribute to the development of a portion of cases of CL/P.In this study, we performed detailed cytogenetic analysis of 59 nonsyndromic CL/P patients using high resolusion banding technique and association study comparing genetic variation at TGF alpha loci in 30 unrelated clefted individuals with 34 controls. In conclusion, we could not find any specific chromosomal abnormalities and significant association between RFLPs of TGF alpha and CL/P determined by the previous studies for Caucasian CL/P patient.