title: IVSII-666 of human beta-globin gene: a polymorphic marker linked to codon 8(-AA) mutation.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran. halehakhavan@yahoo.com
authors: Haleh
authors: H
authors: Akhavan-Niaki
authors: Siamak Shafiezadeh
authors: SS
authors: Seresti
authors: Beheshteh
authors: B
authors: Asghari
authors: Ali
authors: A
authors: Banihashemi
mesh_terms: D003062:Codon / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007492:Iran; D009154:Mutation; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics
chemical_list: D003062:Codon; D055544:beta-Globins; C061568:endodeoxyribonuclease SspI; D015252:Deoxyribonucleases, Type II Site-Specific