人类β-珠蛋白基因的IVSII - 666：一个与密码子8（-AA）突变相关的多态性标记。

IVSII-666 of human beta-globin gene: a polymorphic marker linked to codon 8(-AA) mutation.

作者信息

Akhavan-Niaki Haleh, Seresti Siamak Shafiezadeh, Asghari Beheshteh, Banihashemi Ali

机构信息

Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran.

出版信息

Genet Test Mol Biomarkers. 2011 Jul-Aug;15(7-8):573-6. doi: 10.1089/gtmb.2010.0242. Epub 2011 Mar 31.

DOI:10.1089/gtmb.2010.0242

PMID:21453056

Abstract

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.

摘要

目的

IVSII-666（C-T）是位于β-珠蛋白基因第二内含子的多态性位点之一。首次使用Ssp1限制性内切酶对生活在伊朗北部马赞德兰省的211例地中海贫血特征患者的DNA样本进行其多态性率及与特定突变关系的研究。还通过分析家庭成员对XmnI/（G）γ、HincII/3'Ψβ、HinfI/5'β、RsaI/5'β和SspI/β位点的β-珠蛋白单倍型进行了测定。

结果

在211例无关的地中海贫血特征患者中发现了19种不同的单倍型。127例患者（60.2%）为Ssp1多态性纯合子（+/+），81例（38.4%）为杂合子（+/-），3例（1.4%）为纯合子（-/-）。在24条SspI阴性的突变染色体中，16条与密码子8（-AA）突变相关。所有密码子8（-AA）突变均与SspI阴性位点相关。