Watanabe T, Ohishi M, Tashiro H
Cleft Palate J. 1984 Oct;21(4):293-300.
Population and family studies of HLA were performed in Japanese patients with cleft lip and/or cleft palate (CL/P). Frequency of HLA-Cw 7 was significantly increased in cleft lip (CL) patients (37.5%) and cleft palate (CP) patients (37.8%) but was not increased in cleft lip and palate (CLP) patients (17.5%), compared with control subjects (13.3%). However, the intensities of the associations were not great (relative risk = 4.0). The affected sib pairs method was studied in 13 families with CL- or CLP-affected sib pairs and 10 families with CP-affected sib pairs. However, in both groups of families the distributions of HLA haplotypes in affected sib pairs did not significantly differ from random Mendelian expectation. Thus, HLA-linked major genes (loci) which determine the development of CL/P were not found. These results seem indirectly to support the multifactorial theory of CL/P, but does not exclude other possible genetic mechanisms.
对日本唇腭裂（CL/P）患者进行了HLA的群体和家系研究。与对照组（13.3%）相比，唇裂（CL）患者（37.5%）和腭裂（CP）患者（37.8%）中HLA-Cw 7的频率显著增加，但唇腭裂（CLP）患者（17.5%）中该频率未增加。然而，关联强度不大（相对风险=4.0）。对13个有CL或CLP受累同胞对的家庭以及10个有CP受累同胞对的家庭采用受累同胞对法进行了研究。然而，在这两组家庭中，受累同胞对中HLA单倍型的分布与随机孟德尔预期无显著差异。因此，未发现决定CL/P发生的HLA连锁主基因（位点）。这些结果似乎间接支持了CL/P的多因素理论，但不排除其他可能的遗传机制。
