Molecular pathology of haemoglobin H disease in Sardinians

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作者：

E Paglietti，R Galanello，P Moi，M Pirastu，A Cao

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摘要：

We investigated the molecular basis for haemoglobin H disease in 50 Sardinian patients by restriction endonuclease analysis. We found that the majority (78% of the cases) are due to gene deletion (–/ - α). Among those with a combination of deletion and nondeletion defects (–/αα th ), the most prevalent nondeletion lesion (70% of the nondeletion defects) was the initiation codon mutation of the α 2 gene (α Nco α), previously discovered in this population. Of the remaining patients with the (–/αα th ) genotype, two showed the IVS-1 splice junction lesion and one a mutation in the α 1 gene, removing the Nco I site within the 5'part of the α 1 gene, which may arise from a process of gene conversion from the initiation codon mutant of the α 2 gene. A single patient had the homozygous state for the initiation codon mutant of the α 2 gene. Study of genotype-phenotype correlations indicates that the (α Nco α) haplotype is associated with a more severe defect in the α-globin chain output than that resulting from the (-α) haplotype. We may conclude that restriction endonuclease analysis is a powerful method for the definition of the molecular heterogeneity of haemoglobin H disease.

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DOI：

10.1111/j.1365-2141.1986.tb07525.x

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年份：

2010