来自家族研究的证据表明，TGFA与非综合征性唇裂伴或不伴腭裂的一个基因之间存在连锁不平衡。
Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate.
作者信息
Feng H, Sassani R, Bartlett S P, Lee A, Hecht J T, Malcolm S, Winter R M, Vintiner G M, Buetow K H, Gasser D L
机构信息
Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104.
出版信息
Am J Hum Genet. 1994 Nov;55(5):932-6.
The inheritance of alleles of the transforming growth factor alpha (TGFA) locus has been studied in families affected with cleft lip with or without cleft palate (CL/P), by using the transmission/disequilibrium test described by Spielman and colleagues. Only heterozygous parents with an affected child can be included in this test, but within such families a significantly greater frequency of C2 alleles were transmitted to affected children than would be expected by chance. There was no evidence that the total number of C2 alleles transmitted to affected and unaffected children differed significantly from random segregation. These data provide evidence from within families that a gene for susceptibility to CL/P is in significant linkage disequilibrium with the C2 allele of the TGFA locus.
利用斯皮尔曼及其同事所描述的传递/不平衡检验，对患唇裂伴或不伴腭裂（CL/P）的家庭中转化生长因子α（TGFA）基因座等位基因的遗传情况进行了研究。只有那些孩子患病的杂合子父母才能纳入该检验，但在这类家庭中，与预期的随机频率相比，C2等位基因传递给患病孩子的频率要高得多。没有证据表明传递给患病和未患病孩子的C2等位基因总数与随机分离有显著差异。这些来自家庭内部的数据表明，一个与CL/P易感性相关的基因与TGFA基因座的C2等位基因存在显著的连锁不平衡。
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