Abstract
DNA samples from 100 patients with cleft lip with or without cleft palate (CL/P) were compared with those of 98 unaffected control individuals with respect to transforming growth factor alpha (TGFA) genotypes. Among the Caucasians in this population (83 CL/P, 84 controls), there was a significant difference in the restriction fragment length polymorphisms (RFLPs) observed after digestion with TaqI (χ2 = 4.68, P = 0.03). The frequency of the C2 allele in the Caucasian CL/P population was 0.169, whereas that in the control group was 0.089. When the data for Caucasians, African-Americans, and Asians were examined jointly, the χ2 value for the pooled sample was 5.08 (P = 0.02). This confirms the hypothesis of Ardinger et al. [1989, Am J Hum Genet, 45:348-353] that TFGA itself or a closely linked gene contributes to the development of CL/P in humans.
Original language | English (US) |
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Pages (from-to) | 565-569 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics |
Volume | 45 |
Issue number | 5 |
DOIs | |
State | Published - 1993 |
Externally published | Yes |
Keywords
- CL/P
- TFGA
- cleft lip
ASJC Scopus subject areas
- Genetics(clinical)