Stoll C, Qian J F, Feingold J, Sauvage P, May E
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
Hum Genet. 1993 Aug;92(1):81-2. doi: 10.1007/BF00216150.
Non-syndromic cleft lip with or without cleft palate (CL/P) is one of the most common birth defects affecting 1/1000 Caucasians. Genetic factors are thought to contribute to the development of this disorder. A significant association between two restriction fragment length polymorphisms, the TGF alpha TaqI 2.7-kb allele and the TGF alpha BamHI 40-kb allele, at the transforming growth factor alpha (TGF alpha) locus and the occurrence of clefting has previously been reported. A total of 98 Caucasian patients of Alsacian ancestry was recruited from our registry of congenital malformations. These patients had isolated CL/P but no other anomalies. In addition 57 patients with cleft palate, but without cleft lip, were studied. A control group comprised 99 unrelated healthy Caucasians of the same Alsacian ancestry. TaqI and BamHI identify two-allele polymorphisms. The TGFA Taq and BamHI alleles showed no significant association with the presence of clefting, the only exception being that the BamHI 10.0-kb allele was significantly more frequent in patients with bilateral CL/P.
非综合征性唇裂伴或不伴腭裂（CL/P）是影响千分之一高加索人的最常见出生缺陷之一。遗传因素被认为与这种疾病的发生有关。先前已有报道，在转化生长因子α（TGFα）基因座上的两个限制性片段长度多态性，即TGFα TaqI 2.7-kb等位基因和TGFα BamHI 40-kb等位基因，与唇腭裂的发生之间存在显著关联。我们从先天性畸形登记处招募了98名具有阿尔萨斯血统的高加索患者。这些患者患有单纯性CL/P，但无其他异常。此外，还研究了57例腭裂但无唇裂的患者。一个对照组由99名具有相同阿尔萨斯血统的无关健康高加索人组成。TaqI和BamHI识别双等位基因多态性。TGFA Taq和BamHI等位基因与唇腭裂的存在无显著关联，唯一的例外是BamHI 10.0-kb等位基因在双侧CL/P患者中明显更常见。
