Nucleic Acids Res. 1981 Apr 24;9(8):1777-88.

An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene.

Abstract

A 7.5 kb Hsu I restriction fragment of genomic DNA containing a beta-globin gene has been isolated from a patient doubly heterozygous for beta + thalassaemia and a delta beta (Lepore globin fusion gene. This fragment must be derived from the chromosome carrying the beta +-thalassaemia determinant. The gross structure of the cloned gene plus flanking sequences is indistinguishable from that of a normal beta-globin gene. Within in 1606 base-pair transcribed region of the gene there is only one nucleotide difference from the normal beta-globin gene sequence. This is a G leads to A replacement 21 nucleotides upstream from the 3' terminus of the small intron. This nucleotide lies within a 10 base-pair sequence repeated in an inverted configuration near the 5' terminus of the small intron. The nucleotide replacement may result in a precursor mRNA less amenable to RNA splicing than its normal counterpart.

PMID:: 6264391; [PubMed - indexed for MEDLINE]
PMCID:: PMC326802

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GENBANK/J00093
GENBANK/J00094
GENBANK/J00096
GENBANK/J00158
GENBANK/J00159
GENBANK/J00160
GENBANK/J00161
GENBANK/J00162
GENBANK/J00163
GENBANK/J00164
GENBANK/J00165
GENBANK/J00166
GENBANK/J00167
GENBANK/J00168
GENBANK/J00169
GENBANK/J00170
GENBANK/J00171
GENBANK/J00172
GENBANK/J00173
GENBANK/J00174
GENBANK/J00175
GENBANK/J00177
GENBANK/J00178
GENBANK/J00179
GENBANK/K01239
GENBANK/K01890
GENBANK/K02544
GENBANK/M18047
GENBANK/M19067
GENBANK/X00423

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1R01AM20125-01A1/AM/NIADDK NIH HHS/United States

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Nucleic Acids Res. 1981 Apr 24 ;9(8):1777-88.

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