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

Abstract

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.

Authors+Show Affiliations

Department of Chemistry, Faculty of Science, Hokkaido University, Sapporo, Japan.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

2101909

Citation

Iida, Y. "Quantification Analysis of Human Alpha-globin Gene. Mutation in 5'-splice Junction Sequence and Alpha-thalassemia." Nucleic Acids Symposium Series, 1990, pp. 37-8.
Iida Y. Quantification analysis of human alpha-globin gene. Mutation in 5'-splice junction sequence and alpha-thalassemia. Nucleic Acids Symp Ser. 1990.
Iida, Y. (1990). Quantification analysis of human alpha-globin gene. Mutation in 5'-splice junction sequence and alpha-thalassemia. Nucleic Acids Symposium Series, (22), 37-8.
Iida Y. Quantification Analysis of Human Alpha-globin Gene. Mutation in 5'-splice Junction Sequence and Alpha-thalassemia. Nucleic Acids Symp Ser. 1990;(22)37-8. PubMed PMID: 2101909.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Quantification analysis of human alpha-globin gene. Mutation in 5'-splice junction sequence and alpha-thalassemia. A1 - Iida,Y, PY - 1990/1/1/pubmed PY - 1990/1/1/medline PY - 1990/1/1/entrez SP - 37 EP - 8 JF - Nucleic acids symposium series JO - Nucleic Acids Symp Ser IS - 22 N2 - 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. SN - 0261-3166 UR - https://www.unboundmedicine.com/medline/citation/2101909/Quantification_analysis_of_human_alpha_globin_gene__Mutation_in_5'_splice_junction_sequence_and_alpha_thalassemia_ L2 - http://www.diseaseinfosearch.org/result/333 DB - PRIME DP - Unbound Medicine ER -
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