Eufinger H, Rand S, Scholz W, Machtens E
University Hospital for Oral & Maxillofacial Surgery-Plastic Operations, Knappschaftskrankenhaus-Ruhr-Universität, Bochum, Germany.
Cleft Palate Craniofac J. 1993 Nov;30(6):564-8. doi: 10.1597/1545-1569_1993_030_0564_cotlap_2.3.co_2.
The study of twins is a well-established method for evaluating the relative roles of heredity and environmental factors in the etiology of diseases. Conclusions depend on zygosity determination and on the classification of minor forms of diseases. This paper reports on ten (5 mono- and 5 dizygotic) out of thirteen twin pairs among 1039 patients with cleft lip and palate (n = 677) or cleft palate (n = 362). Zygosity was determined using "DNA fingerprinting" on blood samples in all 10 pairs and on cleft-associated tissue in one pair. Including minor forms of clefting, two of five pairs of monozygotic and two of five pairs of dizygotic twins of the same sex showed concordance. "DNA fingerprinting" should be established as a definitive method for zygosity determination, and the calculation of concordance rates should always include minor forms of diseases.
双胞胎研究是评估遗传因素和环境因素在疾病病因学中相对作用的一种成熟方法。结论取决于合子性判定以及疾病轻微形式的分类。本文报告了1039例唇腭裂患者（n = 677）或腭裂患者（n = 362）中的13对双胞胎中的10对（5对单卵双胞胎和5对双卵双胞胎）。对所有10对双胞胎的血样以及1对双胞胎的腭裂相关组织使用“DNA指纹识别”来确定合子性。包括腭裂的轻微形式，5对同性单卵双胞胎中有2对、5对同性双卵双胞胎中有2对显示出一致性。“DNA指纹识别”应确立为合子性判定的确定性方法，并且一致性率的计算应始终包括疾病的轻微形式。
