Spence M A, Glass L, Crandall B F, Stewart R E, Miles J, Falk R E, Field L L, Sparkes R S
J Craniofac Genet Dev Biol. 1983;3(3):207-12.
Genetic linkage studies are reported on two families with cleft lip +/- cleft palate. For the first family (LP01) the etiology of the clefting is unknown, and the linkage analyses were done assuming both autosomal dominant and autosomal recessive inheritance. Close linkage is rejected with the Duffy blood group under the dominant model and with four loci (Duffy, Kidd, and ABO blood groups and haptoglobin) under the recessive model. The second family (LP02) is a Mexican-American family segregating the van der Woude syndrome with lip pits. The linkage analyses for this autosomal dominant trait excluded close linkage with seven genetic markers, including three on chromosome one. The maximum lod scores were 0.6 with BF (chromosome 6) and 0.4 with the P blood group, which is not yet mapped.
本文报道了两个唇裂伴或不伴腭裂家族的基因连锁研究。对于第一个家族(LP01),唇裂的病因不明,连锁分析在常染色体显性遗传和常染色体隐性遗传两种假设下进行。在显性模型下,杜菲血型与唇裂无紧密连锁;在隐性模型下,杜菲、基德、ABO血型和触珠蛋白这四个基因座与唇裂无紧密连锁。第二个家族(LP02)是一个美籍墨西哥家族,患有范德伍德综合征并伴有唇凹。对这个常染色体显性性状的连锁分析排除了与七个遗传标记的紧密连锁,其中包括位于1号染色体上的三个标记。与BF(6号染色体)的最大对数优势分数为0.6,与尚未定位的P血型的最大对数优势分数为0.4。