Quantification analysis of human alpha-globin gene. Mutation in 5'-splice junction sequence and alpha-thalassemia

Nucleotide sequence of the exon-intron junction in human alpha-globin gene was analyzed by quantification method proposed previously. Using sample score of 9-nucleotide sequence at 5'-splice site, we examined strength of the splice signal. We further studied a mutant of alpha-thalassemia, where pentanucleotide deletion occurs around 5'-splice junction of the first intron. This mutation abolishes the normal 5'-splice site completely, but activates a cryptic site lying in the first exon. Such a behaviour was well explained in terms of our sample scoring scheme.