Galanello R, Loi D, Sollaino C, Dessì S, Cao A, Melis M A
Istituto Clinica Biologia Etá Evolutiva Universitá degli Studi di Cagliari, Italy.
Hum Mutat. 1998;12(1):72-3. doi: 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU19>3.0.CO;2-T.
In this paper we report a male infant heterozygous for thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G-->T mutation at nucleotide 34 in the exon 2, which predicts a Val-->Leu aminoacid substitution at codon 12. We designated this variant as G6PD Sinnai from the place of birth of the propositus.
在本文中，我们报告了一名患有地中海贫血的男性婴儿，其为葡萄糖6磷酸脱氢酶轻度缺乏的杂合子。这种新型III类葡萄糖6磷酸脱氢酶（G6PD）变体的分子基础是外显子2中第34位核苷酸发生G→T突变，这预示着密码子12处缬氨酸→亮氨酸的氨基酸替代。我们根据先证者的出生地将这种变体命名为G6PD 锡奈变体。
