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Sassani R, Bartlett SP, Feng HS, Goldnersauve A, Haq AK, Buetow KH, Gasser DL
Association between Alleles of the Transforming Growth Factor- Alpha Locus and the Occurrence of Cleft-Lip
American Journal of Medical Genetics (1993) 45:565-569.
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 (chi2 = 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 chi2 value for the pooled sample was 5.08 (P = 0.02). This confirms the hypothesis of Ardinger et al. [1989, Am J Hum Genet, 45:348-3531 that TFGA itself or a closely linked gene contributes to the development of CL/P in humans.
Publication Date: 1993-03-01.
Last updated on Saturday, August 22, 2020