一个患有血红蛋白科隆病的家族中可能存在性腺嵌合体。
Possible gonadal mosaicism in a family with hemoglobin Köln.
作者信息
Bradley T B, Wohl R C, Petz L D, Perkins H A, Reynolds R D
出版信息
Johns Hopkins Med J. 1980 Jun;146(6):236-40.
PMID:7382247
Abstract
A brother and sister were the first members of a family to possess hemoglobin Köln (alpha 2 beta 2(98) Val leads to Met). Studies of these siblings and their parents strongly indicated that the anomaly had arisen by spontaneous mutation. Gonadal mosaicism of one of the parents offers the best explanation for the appearance of a spontaneous mutation in multiple members of a sibship.
摘要
一名兄弟和一名姐妹是一个家族中最早拥有科隆血红蛋白（α2β2(98)缬氨酸突变为甲硫氨酸）的成员。对这些兄弟姐妹及其父母的研究有力地表明，这种异常是由自发突变产生的。父母一方的生殖腺嵌合现象为同胞家族中多个成员出现自发突变提供了最佳解释。
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