Shields E D, Bixler D, Fogh-Andersen P
Cleft Palate J. 1979 Jan;16(1):1-6.
A total of 74 Danish twin pairs with cleft lip +/- palate (CL(P)) and isolated cleft palate (CP) born in Denmark from 1941 to 1969 were studied. Eight pairs were of indeterminate zygosity status' and 26 pairs of unlike sex were dizygous (DZ). Of the remaining 42 like-sexed pairs, zygosity assignments were made from genotyping and physical resemblance data. Twelve pairs were given MZ status and thirty pairs DZ status. The following data was calculated: 1) in contrast to other reports, the incidence of either CL(P) or CP was not increased for either MZ or DZ twins; 2) using the pairwise method for concordance rate calculation, concordance rates for CL(P) twins were: MZ = 36 per cent; DZ = 1.5 per cent. For CP, MZ = 33 per cent; DZ = 0 per cent. The results support the concept that heredity is a prime factor in the etiology of clefting, but the low MZ concordance rates also suggest genetic heterogeneity in this cleft population.
对1941年至1969年在丹麦出生的74对患有唇裂伴或不伴腭裂(CL(P))以及孤立性腭裂(CP)的丹麦双胞胎进行了研究。8对双胞胎的合子状态不确定,26对性别不同的双胞胎为异卵双生(DZ)。在其余42对同性别的双胞胎中,根据基因分型和外貌相似数据进行合子状态判定。12对被判定为同卵双生(MZ)状态,30对为异卵双生(DZ)状态。计算了以下数据:1)与其他报告不同,MZ或DZ双胞胎中CL(P)或CP的发病率均未增加;2)使用成对方法计算一致率,CL(P)双胞胎的一致率为:MZ = 36%;DZ = 1.5%。对于CP,MZ = 33%;DZ = 0%。结果支持遗传是腭裂病因中的主要因素这一概念,但MZ的低一致率也表明该腭裂人群存在遗传异质性。