Starck J, Bouhass R, Morlé F, Godet J
Centre de Génétique Moléculaire et Cellulaire, C.N.R.S. UMR 106, Université de Lyon, Villeurbanne, France.
Hum Genet. 1990 Jan;84(2):179-84. doi: 10.1007/BF00208937.
Southern blotting and DNA sequencing after polymerase chain reaction (PCR) amplification provide evidence for the frequent occurrence (in 7 out of 24 chromosomes) of a short conversion G gamma----A gamma in the 3' end of the human fetal A gamma globin gene. This short conversion is characterized by the presence, 3 nucleotides downstream from the termination codon of the A gamma gene, of the TCAC sequence that is normally present at the equivalent position at the 3' end of the G gamma gene; it is therefore identical to a conversion already described. Interestingly, we have found that this conversion is associated with the presence of the HindIII polymorphic restriction site in the A gamma IVS2, occupying an equivalent position in both the G gamma and A gamma genes. Our observations strengthen the hypothesis that the presence of the HindIII polymorphic restriction site in A gamma IVS2 and the presence of the sequence TCAC at the 3' end of the A gamma gene might be the result of a single conversion event.
聚合酶链反应（PCR）扩增后的Southern印迹法和DNA测序为人类胎儿Aγ珠蛋白基因3'端频繁出现的短转换Gγ----Aγ（24条染色体中有7条）提供了证据。这种短转换的特征是，在Aγ基因终止密码子下游3个核苷酸处存在通常位于Gγ基因3'端等效位置的TCAC序列；因此它与已描述的一种转换相同。有趣的是，我们发现这种转换与AγIVS2中HindIII多态性限制性位点的存在有关，该位点在Gγ和Aγ基因中占据等效位置。我们的观察结果强化了这样一种假设，即AγIVS2中HindIII多态性限制性位点的存在以及Aγ基因3'端TCAC序列的存在可能是单一转换事件的结果。
