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Literature DB >> 2901223

A new hypervariable marker for the human alpha-globin gene cluster.

Abstract

We have located a highly polymorphic region of DNA approximately 100 kb upstream of the human alpha-globin genes (the alpha-globin 5' hypervariable region; 5'HVR). The element responsible is a minisatellite sequence comprising a variable copy number tandem repeat array of a G/C-rich 57-bp sequence. This increases the number of minisatellite elements in the vicinity of the alpha-globin genes to five, all of which share a region of sequence identity, thus raising questions concerning the distribution and origins of such tandem repeat sequences. The 5'HVR is highly polymorphic and, together with other hypervariable regions at this locus, provides a valuable genetic marker on the short arm of chromosome 16.

Entities: Species

Mesh：

Substances：
DNA, Satellite
Globins

Year: 1988 PMID： 2901223 PMCID： PMC1715380

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

26 in total

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

2. Unusual features of CpG-rich (HTF) islands in the human alpha globin complex: association with non-functional pseudogenes and presence within the 3' portion of the zeta gene.

Authors: N Fischel-Ghodsian; R D Nicholls; D R Higgs
Journal: Nucleic Acids Res Date: 1987-11-25 Impact factor: 16.971

3. Hypervariable 'minisatellite' regions in human DNA.

Authors: A J Jeffreys; V Wilson; S L Thein
Journal: Nature Date: 1985 Mar 7-13 Impact factor: 49.962

4. Efficient in vitro synthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter.

Authors: D A Melton; P A Krieg; M R Rebagliati; T Maniatis; K Zinn; M R Green
Journal: Nucleic Acids Res Date: 1984-09-25 Impact factor: 16.971

5. The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene.

Authors: N J Proudfoot; A Gil; T Maniatis
Journal: Cell Date: 1982-12 Impact factor: 41.582

6. Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue.

Authors: D J Capon; E Y Chen; A D Levinson; P H Seeburg; D V Goeddel
Journal: Nature Date: 1983-03-03 Impact factor: 49.962

7. Variation in the sequence and modification state of the human insulin gene flanking regions.

Authors: A Ullrich; T J Dull; A Gray; J A Philips; S Peter
Journal: Nucleic Acids Res Date: 1982-04-10 Impact factor: 16.971

8. Molecular basis of length polymorphism in the human zeta-globin gene complex.

Authors: S E Goodbourn; D R Higgs; J B Clegg; D J Weatherall
Journal: Proc Natl Acad Sci U S A Date: 1983-08 Impact factor: 11.205

9. Sequencing end-labeled DNA with base-specific chemical cleavages.

Authors: A M Maxam; W Gilbert
Journal: Methods Enzymol Date: 1980 Impact factor: 1.600

10. The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences.

Authors: G I Bell; M J Selby; W J Rutter
Journal: Nature Date: 1982-01-07 Impact factor: 49.962

24 in total

1. Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster.

Authors: S A Liebhaber; E U Griese; I Weiss; F E Cash; H Ayyub; D R Higgs; J Horst
Journal: Proc Natl Acad Sci U S A Date: 1990-12 Impact factor: 11.205

Review 2. Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved "chromatin folding code".

Authors: P Vogt
Journal: Hum Genet Date: 1990-03 Impact factor: 4.132

3. Genetic linkage map of 46 DNA markers on human chromosome 16.

Authors: T P Keith; P Green; S T Reeders; V A Brown; P Phipps; A Bricker; K Falls; K S Rediker; J A Powers; C Hogan
Journal: Proc Natl Acad Sci U S A Date: 1990-08 Impact factor: 11.205

4. Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

Authors: M H Breuning; F G Snijdewint; J G Dauwerse; J J Saris; E Bakker; P L Pearson; G J vanOmmen
Journal: J Med Genet Date: 1990-10 Impact factor: 6.318

5. Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).

Authors: M H Breuning; F G Snijdewint; H Brunner; A Verwest; J W Ijdo; J J Saris; J G Dauwerse; L Blonden; T Keith; D F Callen
Journal: J Med Genet Date: 1990-10 Impact factor: 6.318

6. Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene.

Authors: L Romao; F Cash; I Weiss; S Liebhaber; M Pirastu; R Galanello; A Loi; E Paglietti; P Ioannou; A Cao
Journal: Hum Genet Date: 1992-05 Impact factor: 4.132

7. Cloning and characterization of the mouse alpha globin cluster and a new hypervariable marker.

Authors: Q Z Zhao; X L Liang; S Mitra; G Gourdon; B P Alter
Journal: Mamm Genome Date: 1996-10 Impact factor: 2.957

8. De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).

Authors: J Lamb; P C Harris; A O Wilkie; W G Wood; J G Dauwerse; D R Higgs
Journal: Am J Hum Genet Date: 1993-04 Impact factor: 11.025

9. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

Authors: A O Wilkie; V J Buckle; P C Harris; J Lamb; N J Barton; S T Reeders; R H Lindenbaum; R D Nicholls; M Barrow; N C Bethlenfalvay
Journal: Am J Hum Genet Date: 1990-06 Impact factor: 11.025

10. Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.

Authors: G G Germino; N J Barton; J Lamb; D R Higgs; P Harris; G H Xiao; G Scherer; Y Nakamura; S T Reeders
Journal: Am J Hum Genet Date: 1990-05 Impact factor: 11.025