Kutlar A, Gardiner M B, Headlee M G, Reese A L, Cleek M P, Nagle S, Sukumaran P K, Huisman T H
Biochem Genet. 1984 Feb;22(1-2):21-35. doi: 10.1007/BF00499284.
Restriction endonuclease analyses of DNA from one Black G gamma A gamma-HPFH homozygote and four Black and one Indian G gamma A gamma-HPFH heterozygotes have identified three different HPFH types which are the result of large deletions including the delta and beta genes. Two of the types are comparable to those characterized previously, but the third, which is present in the Indian heterozygote, shows a distinct difference in the size of the deletion. The 5' end point of the deletion in this type III G gamma A gamma-HPFH extends 0.5-1.0 kb beyond the 5' end point of one of the Black types of HPFH (type I). Each of the three types is associated with a distinct ratio between the G gamma and the A gamma chains, an observation supported by family data. The highest ratio is found in the heterozygote with the Indian type III G gamma A gamma-HPFH, with 69.3% G gamma chains, while the averages for the other types were 50.7% G gamma (type I) and 32.3% G gamma (type II).
对一名黑人GγAγ-HPFH纯合子以及四名黑人和一名印度GγAγ-HPFH杂合子的DNA进行限制性内切酶分析，确定了三种不同的HPFH类型，它们是包括δ和β基因在内的大片段缺失的结果。其中两种类型与先前鉴定的类型相似，但存在于印度杂合子中的第三种类型在缺失大小上显示出明显差异。这种III型GγAγ-HPFH缺失的5'端点比一种黑人类型的HPFH（I型）的5'端点延伸了0.5 - 1.0 kb。这三种类型中的每一种都与Gγ和Aγ链之间的特定比例相关，家族数据支持了这一观察结果。在具有印度III型GγAγ-HPFH的杂合子中发现了最高比例，其中Gγ链占69.3%，而其他类型的平均值分别为50.7% Gγ（I型）和32.3% Gγ（II型）。
