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  • Title: Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population.
    Author: Jara L, Blanco R, Chiffelle I, Palomino H, Carreño H.
    Journal: Am J Med Genet; 1995 Jul 17; 57(4):548-51. PubMed ID: 7573126.
    Abstract:
    Two RFLPs at the TGFA locus were studied in 39 unrelated Chilean (Caucasoid-Mongoloid) patients with non-syndromic cleft lip/palate [CL(P)] and 51 control individuals. A highly significant association between BamHI A2 allele and CL(P) was detected (chi 2 = 6.00; P = 0.014), while no association was found between TaqI RFLPs and clefting. No significant differences were found when comparing genotypes by type of cleft and a positive or negative family history of clefting. Our results seem to support rather definitively the association between TGFA and clefting but do not support the hypothesis that TGFA is a major causal gene of CL(P).
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