L. Jara et al., ASSOCIATION BETWEEN ALLELES OF THE TRANSFORMING GROWTH-FACTOR-ALPHA LOCUS AND CLEFT-LIP AND PALATE IN THE CHILEAN POPULATION, American journal of medical genetics, 57(4), 1995, pp. 548-551
Two RFLPs at the TGFA locus were studied in 39 unrelated Chilean (Cauc
asoid-Mongoloid) patients with non-syndromic cleft lip/palate [CL(P)]
and 51 control individuals. A highly significant association between B
amHI A2 allele and CL(P) was detected (chi(2) = 6.00; P = 0.014), whil
e no association was found between TaqI RFLPs and clefting. No signifi
cant differences were found when comparing genotypes by type of cleft
and a positive or negative family history of clefting. Our results see
m to support rather definitively the association between TGFA and clef
ting but do not support the hypothesis that TGFA is a major causal gen
e of CL(P). (C) 1995 Wiley-Liss, Inc.