Jara L, Blanco R, Chiffelle I, Palomino H, Carreño H
Department of Cell Biology and Genetics, Faculty of Medicine, University of Chile, Santiago.
Am J Med Genet. 1995 Jul 17;57(4):548-51. doi: 10.1002/ajmg.1320570406.
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).
在39名患有非综合征性唇腭裂[CL(P)]的智利无关患者（高加索人种 - 蒙古人种）和51名对照个体中，研究了TGFA基因座处的两个限制性片段长度多态性（RFLP）。检测到BamHI A2等位基因与CL(P)之间存在高度显著关联（卡方 = 6.00；P = 0.014），而未发现TaqI RFLP与腭裂之间存在关联。按腭裂类型以及腭裂的阳性或阴性家族史比较基因型时，未发现显著差异。我们的结果似乎相当明确地支持TGFA与腭裂之间的关联，但不支持TGFA是CL(P)主要致病基因的假说。
