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Published on: April 4, 2018
IVSII-666 of human beta-globin gene: a polymorphic marker linked to codon 8(-AA) mutation
Haleh Akhavan-Niaki1, Siamak Shafiezadeh Seresti, Beheshteh Asghari
1Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran. halehakhavan@yahoo.com
Aims:
IVSII-666 (C-T) is one of the polymorphic sites located in the second intron of the β-globin gene. Its polymorphism rate and relationship to a specific mutation are studied for the first time on 211 DNA samples of thalassemia trait patients living in Mazandaran province in North Iran using Ssp1 restriction enzyme. β-Globin haplotype determination at XmnI/(G)γ, HincII/3'Ψβ, HinfI/5'β, RsaI/5'β, and SspI/β sites was also performed by analysis of family members.
Results:
Nineteen different haplotypes were encountered in 211 unrelated thalassemia trait patients. One hundred twenty-seven patients (60.2%) were homozygous (+/+), 81 (38.4%) were heterozygous (+/-), and 3 (1.4%) were homozygous (-/-) for Ssp1 polymorphism. Of 24 mutant chromosomes negative for SspI, 16 were linked to mutation in codon 8(-AA). All codon 8(-AA) mutations were linked to the SspI-negative site.
Conclusion:
The SspI site can be used as a marker for tracking either normal β-globin gene (11.9%) or mutant alleles at codon 8 during prenatal diagnosis.
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