Literature DB >> 7312624

Duplication/deletion polymorphism 5' - to the human beta globin gene.

R A Spritz.   

Abstract

DNA sequence analysis of the human beta globin locus has identified an array of simple tandem repeated sequences upstream from the beta globin structural gene. Comparison of several cloned human beta globin alleles demonstrated a high frequency of sequence heteromorphism at this site apparently due to duplication or deletion of single units of the repeat array. At least two such duplication/deletion events are necessary to account for the observed variation. No other sequence variation was observed, suggesting that duplication/deletion events within the tandem repeat array may be at least 13 to 14 times more frequent than nucleotide substitutions in the surrounding DNA.

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Year:  1981        PMID： 7312624      PMCID： PMC327497          DOI： 10.1093/nar/9.19.5037

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  61 in total

1.  ENZYMATIC SYNTHESIS OF DEOXYRIBONUCLEIC ACID, XVI. OLIGONUCLEOTIDES AS TEMPLATES AND THE MECHANISM OF THEIR REPLICATION.

Authors:  A KORNBERG; L L BERTSCH; J F JACKSON; H G KHORANA
Journal:  Proc Natl Acad Sci U S A       Date:  1964-02       Impact factor: 11.205

2.  Highly reiterated sequences of SIMIANSIMIANSIMIANSIMIANSIMIAN.

Authors:  H Rosenberg; M Singer; M Rosenberg
Journal:  Science       Date:  1978-04-28       Impact factor: 47.728

3.  Subunit structure of chromatin and the organization of eukaryotic highly repetitive DNA: indications of a phase relation between restriction sites and chromatin subunits in African green monkey and calf nuclei.

Authors:  P R Musich; J J Maio; F L Brown
Journal:  J Mol Biol       Date:  1977-12-15       Impact factor: 5.469

4.  Subunit structure of chromatin and the organization of eukaryotic highly repetitive DNA: recurrent periodicities and models for the evolutionary origins of repetitive DNA.

Authors:  J J Maio; F L Brown; P R Musich
Journal:  J Mol Biol       Date:  1977-12-15       Impact factor: 5.469

5.  Genes and spacers of cloned sea urchin histone DNA analyzed by sequencing.

Authors:  W Schaffner; G Kunz; H Daetwyler; J Telford; H O Smith; M L Birnstiel
Journal:  Cell       Date:  1978-07       Impact factor: 41.582

6.  The primary sequence of a crustacean satellite DNA containing a family of repeats.

Authors:  C A Chambers; M P Schell; D M Skinner
Journal:  Cell       Date:  1978-01       Impact factor: 41.582

7.  Complex and simple sequences in human repeated DNAs.

Authors:  L Manuelidis
Journal:  Chromosoma       Date:  1978-03-22       Impact factor: 4.316

8.  Length and sequence heterogeneity of the histone gene repeat unit of the sea urchin, S. purpuratus.

Authors:  G C Overton; E S Weinberg
Journal:  Cell       Date:  1978-06       Impact factor: 41.582

9.  Heterogeneity of the ribosomal genes in mice and men.

Authors:  N Arnheim; E M Southern
Journal:  Cell       Date:  1977-06       Impact factor: 41.582

10.  The nucleotide sequence of oocyte 5S DNA in Xenopus laevis. I. The AT-rich spacer.

Authors:  N V Fedoroff; D D Brown
Journal:  Cell       Date:  1978-04       Impact factor: 41.582
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  26 in total

1.  Nucleotide sequence of the delta-beta-globin intergenic segment in the macaque: structure and evolutionary rates in higher primates.

Authors:  P Savatier; G Trabuchet; Y Chebloune; C Faure; G Verdier; V M Nigon
Journal:  J Mol Evol       Date:  1987       Impact factor: 2.395

2.  A molecular basis for discrete size variation in human ribosomal DNA.

Authors:  J M Erickson; R D Schmickel
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

3.  Meiotic recombination in an Irish family with beta-thalassaemia.

Authors:  G W Hall; M Sampietro; R Barnetson; J Fitzgerald; S McCann; S L Thein
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

4.  Nonuniform recombination within the human beta-globin gene cluster.

Authors:  A Chakravarti; K H Buetow; S E Antonarakis; P G Waber; C D Boehm; H H Kazazian
Journal:  Am J Hum Genet       Date:  1984-11       Impact factor: 11.025

Review 5.  DNA polymorphism and molecular pathology of the human globin gene clusters.

Authors:  S E Antonarakis; H H Kazazian; S H Orkin
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

6.  Construction of a cytogenetically anchored microsatellite map in rabbit.

Authors:  Céline Chantry-Darmon; Céline Urien; Hélène Hayes; Maud Bertaud; Sead Chadi-Taourit; Patrick Chardon; Daniel Vaiman; Claire Rogel-Gaillard
Journal:  Mamm Genome       Date:  2005-06       Impact factor: 2.957

7.  The organization of two related subfamilies of a human tandemly repeated DNA is chromosome specific.

Authors:  M Jeanpierre; D Weil; P Gallano; N Creau-Goldberg; C Junien
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

Review 8.  Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants.

Authors:  J Flint; R M Harding; J B Clegg; A J Boyce
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

9.  The DNA sequence of the 5' flanking region of the human beta-globin gene: evolutionary conservation and polymorphic differences.

Authors:  N Moschonas; E de Boer; R A Flavell
Journal:  Nucleic Acids Res       Date:  1982-03-25       Impact factor: 16.971

10.  Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

Authors:  R Chakraborty; A S Lidsky; S P Daiger; F Güttler; S Sullivan; A G Dilella; S L Woo
Journal:  Hum Genet       Date:  1987-05       Impact factor: 4.132
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