Orioli I M
Departamento de Genética, Universidade Federal do Rio de Janeiro, Brazil.
Am J Hum Genet. 1995 May;56(5):1207-11.
The unclear pattern of inheritance of postaxial polydactyly prompted this search for evidence of imprinting or change of expression in males and females using material of the Latin American Collaborative Study of Congenital Malformations. The frequency of affected offspring for 196 fathers with polydactyly was compared with that for 233 mothers with the same condition, stratified according to African and non-African ancestry. The postaxial polydactyly prevalence rate among the offspring of affected black fathers (44%) was larger than that in the group of affected black mothers (31%), with no difference between affected nonblack fathers (34%) and affected nonblack mothers (33%). The sex ratio (.51) observed in 631 black propositi and in 829 nonblack propositi with polydactyly (.58) could be a further indication of etiologic heterogeneity for polydactyly between these two ethnic groups. The segregation distortion in favor of affected among the offspring of affected black fathers could be interpreted as the effect of a sex-linked recessive modifier gene acting during gametogenesis on an autosomal dominant polydactyly gene, this modifier being more frequent in Africans.
轴后多指畸形的遗传模式不明确，这促使人们利用拉丁美洲先天性畸形协作研究的资料，寻找男性和女性中印迹或表达变化的证据。将196名患有多指畸形的父亲的患病后代频率与233名患有相同病症的母亲的患病后代频率进行比较，并根据非洲和非非洲血统进行分层。受影响的黑人父亲的后代中轴后多指畸形患病率（44%）高于受影响的黑人母亲组（31%），受影响的非黑人父亲（34%）和受影响的非黑人母亲（33%）之间无差异。在631名患有多指畸形的黑人先证者和829名患有多指畸形的非黑人先证者中观察到的性别比（.51）和（.58）可能进一步表明这两个种族群体中多指畸形病因的异质性。受影响的黑人父亲的后代中有利于患病者的分离畸变可解释为在配子发生过程中作用于常染色体显性多指畸形基因的X连锁隐性修饰基因的效应，这种修饰基因在非洲人中更常见。
