A Gene Deletion Ending within a Complex Array of Repeated Sequences 3′ to the Human β -globin Gene Cluster

A DNA fragment containing the deletion junction region from an Indian individual with a type of hereditary persistence of fetal hemoglobin has been cloned. Using a probe isolated from this deletion-spanning clone, we located the 3′ breakpoint of the deletion in normal DNA to a region 30 kilobase pai...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1986-07, Vol.83 (14), p.5194-5198
Main Authors: Henthorn, Paula S., Mager, Dixie L., Huisman, T. H. J., Smithies, O.
Format: Article
Language:English
Subjects:
Bacteriophages
Biological and medical sciences
Chromosome Deletion
DNA
DNA - genetics
DNA mapping
DNA probes
Fetal Hemoglobin - biosynthesis
Fetal Hemoglobin - genetics
Fundamental and applied biological sciences. Psychology
Genes. Genome
Genetic Markers
Genetic variation
Genomics
Globins - genetics
Hemoglobinopathies - genetics
Hemoglobins
Humans
Molecular and cellular biology
Molecular genetics
Nucleotide sequences
Palindromes
Recombination, Genetic
Repetitive Sequences, Nucleic Acid
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Summary:A DNA fragment containing the deletion junction region from an Indian individual with a type of hereditary persistence of fetal hemoglobin has been cloned. Using a probe isolated from this deletion-spanning clone, we located the 3′ breakpoint of the deletion in normal DNA to a region 30 kilobase pairs (kb) downstream of the β -globin gene. The deletion removes 48.5 kb of DNA. Sequences of the deletion junction and of the normal DNA surrounding the 3′ breakpoint were determined and compared to the previously determined sequence of the normal DNA surrounding the 3′ breakpoint. This comparison shows that the deletion was the result of a nonhomologous recombinational event, although there is a 5-base-pair (bp) region of local homology between the normal DNAs at their breakpoints. The 5′ deletion breakpoint occurs in the Alu family repeat 3′ to the Aγ -globin gene. The 3′ breakpoint is located within a region that contains the following: a portion of an L1 (Kpn I) repeat, a perfect 160-bp palindrome, and a set of 41-bp direct repeats that are found elsewhere in the human genome. A variation in restriction fragment lengths was observed in this region in one family.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.83.14.5194