Yang K G, Stoming T A, Fei Y J, Liang S, Wong S C, Masala B, Huang R B, Wei Z P, Huisman T H
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Blood. 1988 May;71(5):1414-7.
DNA amplification combined with hybridization with 32P-labeled synthetic oligonucleotide probes has been used to identify base substitutions in the 5' promoter region of the A gamma globin gene in members of eleven families from China, Sardinia, Canada, and the United States who had a heterozygosity for the A gamma-beta+-hereditary persistence of fetal hemoglobin (HPFH), and in members of six black families with a possible G gamma-beta+-HPFH heterozygosity. All three known A gamma types were observed, ie, the British type (-198, T----C), the Chinese type (-196, C----T), and the Green type (-117, G----A); the latter has been found in a black family. Of the six families with G gamma-beta+-HPFH, three had C----G at -202 and none T----C -175. Conditions for hybridization of amplified DNA with the specific probes are provided and the usefulness of the technique is discussed. The increase in numbers of A gamma(G gamma)-beta+-HPFH heterozygotes with specific base substitutions greatly enhances the probability of a direct correlation between these substitutions and the increase in the production of a specific gamma chain.
DNA扩增结合与32P标记的合成寡核苷酸探针杂交，已被用于鉴定来自中国、撒丁岛、加拿大和美国的11个家庭中具有Aγ-β+-遗传性胎儿血红蛋白持续存在（HPFH）杂合性的成员以及6个可能具有Gγ-β+-HPFH杂合性的黑人家庭成员的Aγ珠蛋白基因5'启动子区域的碱基替换。观察到了所有三种已知的Aγ类型，即英国型（-198，T→C）、中国型（-196，C→T）和格林型（-117，G→A）；后者在一个黑人家庭中被发现。在6个具有Gγ-β+-HPFH的家庭中，3个在-202处有C→G，没有一个在-175处有T→C。提供了扩增DNA与特异性探针杂交的条件，并讨论了该技术的实用性。具有特定碱基替换的Aγ（Gγ）-β+-HPFH杂合子数量的增加大大提高了这些替换与特定γ链产生增加之间直接关联的可能性。
