Plaseska D, Panovska-Popovska S, Lazarevski M, Efremov G D
Macedonian Academy of Sciences and Arts Research Center for Genetic Engineering and Biotechnology, Skopje, Republic of Macedonia.
Hemoglobin. 1994 Nov;18(6):373-82. doi: 10.3109/03630269409045769.
In the course of our newborn screening program for the presence of hemoglobinopathies in the Republic of Macedonia, we have detected a new G gamma chain variant with a Lys-->Asn or AAG-->AAC substitution at codon 104. The variant was found in a blood sample from a healthy baby boy of Macedonian nationality. The abnormal chain was quantitated at 32.4% of the total gamma chains by reversed phase high performance liquid chromatography. The characterization of the variant was by sequence analysis of polymerase chain reaction-amplified DNA. The presence of the mutation in the mother was confirmed by Hph I restriction enzyme digestion of the polymerase chain reaction-amplified DNA fragment. Although the mutated G is the last nucleotide of exon 2 and part of the donor splice site sequence of the second intervening sequence of the G gamma gene, it appears that the splicing of the mRNA in this variant is not altered.
在马其顿共和国针对血红蛋白病开展的新生儿筛查项目过程中，我们检测到一种新的Gγ链变体，其第104密码子存在赖氨酸（Lys）到天冬酰胺（Asn）的替换，即AAG→AAC。该变体在一名马其顿籍健康男婴的血样中被发现。通过反相高效液相色谱法测定，异常链占总γ链的32.4%。通过对聚合酶链反应扩增的DNA进行序列分析来鉴定该变体。通过对聚合酶链反应扩增的DNA片段进行Hph I限制性内切酶消化，证实了母亲存在该突变。尽管突变的G是外显子2的最后一个核苷酸，也是Gγ基因第二个内含序列供体剪接位点序列的一部分，但该变体中mRNA的剪接似乎未发生改变。
