COINHERITANCE OF A NOVEL MUTATION ON THE HBA1 GENE: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] WITH THE α212 PATCHWORK ALLELE AND Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]

被引：3

作者：

Scheps, Karen G. ^{[1
]}

De Paula, Silvia M. ^{[2
]}

Bitsman, Alicia R. ^{[2
]}

Freigeiro, Daniel H. ^{[3
]}

Nora Basack, F. ^{[3
]}

Pennesi, Sandra P. ^{[3
]}

Varela, Viviana ^{[1
]}

机构：

[1] Univ Buenos Aires, Fac Farm & Bioquim, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, Argentina

[2] Hosp Gen Agudos JM Ramos Mejia, Serv Oncohematol, Buenos Aires, DF, Argentina

[3] Hosp Ninos Dr Ricardo Gutierrez, Div Hematol, Buenos Aires, DF, Argentina

来源：

HEMOGLOBIN | 2013年 / 37卷 / 05期

关键词：

alpha-Thalassemia (alpha-thal). HBA1 nondeletional mutation; alpha 212 Patchwork allele; Hb S; Genetics; GLOBIN GENE; DATABASE;

D O I：

10.3109/03630269.2013.806930

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 describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of alpha-thalassemia (alpha-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S[beta 6 (A3) Glu -> Val, GAG>GTG; HBB: c.20A>T] mutation. The deletion of the first base of codon 62 resulted in a frameshift at amino acid 62 with a putative premature termination codon (PTC) at amino acid 66 on the same exon (p.W62fsX66), which most likely triggers nonsense mediated decay of the resulting mRNA. This study also presents the first report of the alpha 212 patchwork allele in Latin America and the description of two new sequence variants in the HBA2 region (c.-614G>A in the promoter region and c.95+39C>T on the first intron).

引用

页码：492 / 500

页数：9

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COINHERITANCE OF A NOVEL MUTATION ON THE HBA1 GENE: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] WITH THE α212 PATCHWORK ALLELE AND Hb S [β6(A3)Glu→Val, GAG&gt;GTG; HBB: c.20A&gt;T]

COINHERITANCE OF A NOVEL MUTATION ON THE HBA1 GENE: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] WITH THE α212 PATCHWORK ALLELE AND Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]