在编码γ3链恒定区的基因座上存在纯合的“缺失”或“沉默”基因的证据。
Evidence for "deleted" or "silent" genes homozygous at the locus coding for the constant region of the gamma3 chain.
作者信息
Lefranc G, Rivat L, Rivat C, Loiselet J, Ropartz C
出版信息
Am J Hum Genet. 1976 Jan;28(1):51-61.
Abstract
Three uncommon stable Gm haplotypes, Gm3;23;--, Gm1,2,17;..;-- and Gm1,17;..;-- have been transmitted through 3 generations of two related Lebanese and Syrian families. No pathological consequence was noted in seven individuals, aged 14--65, whose sera were deficient for all the allotypes carried by the IgG3 chains. Among the different genetic events which could have produced these haplotypes (alteration of a regulatory gene, point mutation, gene hybridization, gene deletion), it appears that a structural deletion is the most probable explanation. The observed data can be explained by either a partial or a total deletion of the constant portion of the IgG3 heavy chain.
摘要
三种不常见的稳定Gm单倍型，即Gm3;23;--、Gm1,2,17;..;--和Gm1,17;..;--，已在两个有亲缘关系的黎巴嫩和叙利亚家族中传递了三代。在14至65岁的7名个体中未观察到病理后果，这些个体的血清缺乏IgG3链携带的所有同种异型。在可能产生这些单倍型的不同遗传事件（调节基因改变、点突变、基因杂交、基因缺失）中，结构缺失似乎是最有可能的解释。观察到的数据可以通过IgG3重链恒定区的部分或完全缺失来解释。
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