Lin L I, Lin K S, Lin D T
School of Medical Technology, College of Medicine, National Taiwan University, Taipei, R.O.C.
J Formos Med Assoc. 1992 Feb;91(2):121-5.
The beta-like globin gene cluster, consisting of five genes and a pseudogene, is located on chromosome 11 and is arranged in the order 5'-epsilon-G gamma-A gamma-phi beta-delta-beta-3'. With the fast and sensitive method of high-performance liquid chromatography (HPLC) in the gradient mobile system, we studied the G gamma values of fetal hemoglobin in 34 patients with Cooley's anemia, 100 normal adults and 100 newborns. There were 84 newborns with a mean G gamma value of 67.41 +/- 2.37%, 15 newborns with a G gamma value of 83.45 +/- 1.92% and one newborn with a G gamma value of 100%. Because the medium value of 67.41% and 100% is near the value of 83.45%, we speculate that there are different g gene genotypes; that is, the group with a G gamma value of 100% has a genotype of G gamma-G gamma/G gamma-G gamma, the group with a G gamma value of 83.45% has a genotype of G gamma-G gamma/G gamma-A gamma, and the group with a G gamma value of 67.41% has a genotype of G gamma-A gamma/G gamma-A gamma. The G gamma value for normal adults was 41.84 +/- 20.91%. While the G gamma values for patients with Cooley's anemia were divided into two groups, 56.23 +/- 6.55% and 80.60 +/- 3.05%. There was no case having a G gamma value of 100%. Our results suggest that the expression of the gamma gene in Cooley's anemia is similar to that of the newborns.
类β珠蛋白基因簇由五个基因和一个假基因组成，位于11号染色体上，排列顺序为5'-ε-Gγ-Aγ-φβ-δ-β-3'。我们采用梯度流动系统中的高效液相色谱（HPLC）快速灵敏方法，研究了34例库利贫血患者、100名正常成年人及100名新生儿的胎儿血红蛋白Gγ值。有84例新生儿的平均Gγ值为67.41±2.37%，15例新生儿的Gγ值为83.45±1.92%，1例新生儿的Gγ值为100%。由于67.41%和100%的中间值接近83.45%的值，我们推测存在不同的g基因基因型；即Gγ值为100%的组基因型为Gγ-Gγ/Gγ-Gγ，Gγ值为83.45%的组基因型为Gγ-Gγ/Gγ-Aγ，Gγ值为67.41%的组基因型为Gγ-Aγ/Gγ-Aγ。正常成年人的Gγ值为41.84±20.91%。库利贫血患者的Gγ值分为两组，分别为56.23±6.55%和80.60±3.05%。没有Gγ值为100%的病例。我们的结果表明，库利贫血中γ基因的表达与新生儿相似。
