Kaye C I, Martin A O, Rollnick B R, Nagatoshi K, Israel J, Hermanoff M, Tropea B, Richtsmeier J T, Morton N E
Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284-7809.
Am J Med Genet. 1992 Aug 1;43(6):913-7. doi: 10.1002/ajmg.1320430602.
Seventy-four families of probands with oculoauriculovertebral anomaly were evaluated, including 116 parents and 195 offspring. Relatives were examined to identify ear malformations, mandibular anomalies, and other craniofacial abnormalities. For segregation analysis using POINTER, selection of the sample was consistent with single ascertainment. Different population liabilities were used for probands and relatives, because affection was narrowly defined for probands and broadly defined for relatives. The hypothesis of no genetic transmission was rejected. The evidence favored autosomal dominant inheritance; recessive and polygenic models were not distinguishable.
对74个患有眼耳脊椎异常的先证者家庭进行了评估，包括116名父母和195名后代。对亲属进行检查以确定耳部畸形、下颌骨异常和其他颅面异常。为了使用POINTER进行分离分析，样本的选择符合单一确诊标准。先证者和亲属使用了不同的群体易患性，因为先证者的患病定义较窄，而亲属的患病定义较宽。无遗传传递的假设被拒绝。证据支持常染色体显性遗传；隐性和多基因模型无法区分。
