Two New α1-Globin Gene Point Mutations: Hb Nedlands (HBA1:c.86C>T) [α28(B9)Ala→Val] and Hb Queens Park (HBA1:c.98T>A) [α32(B13)Met→Lys]

被引：15
作者：
Phylipsen, Marion [1 ]
Prior, John F. [2 ]
Lim, Erna [2 ]
Lingam, Neela [2 ]
Finlayson, Jill [2 ]
Arkesteijn, Sandra G. J. [1 ]
Harteveld, Cornelis L. [1 ]
Giordano, Piero C. [1 ]
机构：
[1] Leiden Univ, Human & Clin Genet Dept, Hemoglobinopathies Lab, Med Ctr, NL-2300 RC Leiden, Netherlands
[2] Sir Charles Gairdner Hosp, PathW Lab Med, Hematol & Mol Dept, Nedlands, WA 6009, Australia
来源：
HEMOGLOBIN | 2010年 / 34卷 / 02期
关键词：
THALASSEMIA DELETIONS; ALPHA-THALASSEMIA; REARRANGEMENTS;
D O I：
10.3109/03630261003679854
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
We report two new point mutations of the alpha 1-globin gene found in a Greek and a Burmese patient, both living in Western Australia. The patients were initially selected for their microcytic hypochromic parameters as belonging to a group suspected for uncommon (deletion) defects. Gap-polymerase chain reaction (gap-PCR) and multiplex ligation-dependent probe amplification (MLPA) technologies were applied, and in those cases not showing deletions, direct sequencing was performed. We have found 1) HBA1:c.86C > T, Hb Nedlands [alpha 28(B9)Ala -> Val] which, based on the red cell indices and phenotype prediction scores, is presumed to be clinically silent, and 2) HBA1:c.98T > A, Hb Queens Park [alpha 32(B13)Met -> Lys] which seems to be associated with a mild alpha-thalassemia (alpha-thal) phenotype. The phenotype/genotype correlation is briefly described.</.
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页码：123 / 126
页数：4
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