Literature DB >> 6269090

Two types of triplicated alpha-globin loci in humans.

L E Lie-Injo, A R Herrera, Y W Kan.   

Abstract

DNA from healthy Malaysian newborns was studied on gene maps after digestion with different restriction endonucleases. Of 65 newborns, two were found to be carriers of two different variants of triplicated alpha-globin loci. In variant no. 1, found in an Malay, the three alpha-globin genes are in an elongated DNA fragment on digestion with Eco RI and Bam HI. The third alpha-globin gene was found in a additional 3.7-kb fragment on digestion with Hpa I, Bgl II and Hind III. In variant no. 2, a new type of triplicated alpha-globin loci, found in a Chinese, the three alpha-globin genes reside in an elongated DNA fragment longer than that of variant no. 1 on digestion with Eco RI and Bam HI. The third alpha-globin gene was found in an additional 4.2-kb fragment on digestion with Hpa I and Hind III. Digestion of this variant DNA with Bg1 II produced an abnormal 16.7-kb fragment in addition to the normal 7.0-kb Bgl-II fragment. The locations of the restriction sites in the two types of triplicated alpha-globin loci are compatible with a mechanism of unequal crossing over following two different modes of misalignment.

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Year:  1981        PMID: 6269090      PMCID: PMC327386          DOI: 10.1093/nar/9.15.3707

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


  19 in total

1.  Deletion of alpha-globin genes in haemoglobin-H disease demonstrates multiple alpha-globin structural loci.

Authors:  Y W Kan; A M Dozy; H E Varmus; J M Taylor; J P Holland; L E Lie-Injo; J Ganesan; D Todd
Journal:  Nature       Date:  1975-05-15       Impact factor: 49.962

2.  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

3.  Identification of a nondeletion defect in alpha-thalassemia.

Authors:  Y W Kan; A M Dozy; R Trecartin; D Todd
Journal:  N Engl J Med       Date:  1977-11-17       Impact factor: 91.245

4.  Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes.

Authors:  S H Embury; R V Lebo; A M Dozy; Y W Kan
Journal:  J Clin Invest       Date:  1979-06       Impact factor: 14.808

5.  Genetic lesion in homozygous alpha thalassaemia (hydrops fetalis).

Authors:  J M Taylor; A Dozy; Y W Kan; H E Varmus; L E Lie-Injo; J Ganesan; D Todd
Journal:  Nature       Date:  1974-10-04       Impact factor: 49.962

6.  Triplicated alpha-globin loci in humans.

Authors:  M Goossens; A M Dozy; S H Embury; Z Zachariades; M G Hadjiminas; G Stamatoyannopoulos; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1980-01       Impact factor: 11.205

7.  The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia.

Authors:  L E Lie-Injo; A M Dozy; Y W Kan; M Lopes; D Todd
Journal:  Blood       Date:  1979-12       Impact factor: 22.113

8.  The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease.

Authors:  S H Orkin; J Old; H Lazarus; C Altay; A Gurgey; D J Weatherall; D G Nathan
Journal:  Cell       Date:  1979-05       Impact factor: 41.582

9.  Insertion of synthetic copies of human globin genes into bacterial plasmids.

Authors:  J T Wilson; L B Wilson; J K deRiel; L Villa-komaroff; A Efstratiadis; B G Forget; S M Weissman
Journal:  Nucleic Acids Res       Date:  1978-02       Impact factor: 16.971

10.  Nucleotide sequence of the rightward operator of phage lambda.

Authors:  T Maniatis; A Jeffrey; D G Kleid
Journal:  Proc Natl Acad Sci U S A       Date:  1975-03       Impact factor: 11.205

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  18 in total

1.  Interaction of heterozygous beta (0)-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family.

Authors:  P Beris; R Darbellay; A Hochmann; E Pradervand; P Pugin
Journal:  Klin Wochenschr       Date:  1991-10-02

2.  Prenatal diagnosis of alpha-thalassemia by polymerase chain reaction and dual restriction enzyme analysis.

Authors:  R V Lebo; R K Saiki; K Swanson; M A Montano; H A Erlich; M S Golbus
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132

3.  The Frequency of α-Globin Gene Triplication in a Southern Chinese Population.

Authors:  Man-Yu Wu; Jian-Ying Zhou; Jian Li; Dong-Zhi Li
Journal:  Indian J Hematol Blood Transfus       Date:  2015-09-02       Impact factor: 0.900

4.  Globin genes in Polynesians have many rearrangements including a recently described gamma gamma gamma gamma/.

Authors:  R J Trent; K N Mickleson; T Wilkinson; J Yakas; M W Dixon; P J Hill; H Kronenberg
Journal:  Am J Hum Genet       Date:  1986-09       Impact factor: 11.025

5.  The Atlanta family with hemoglobin Grady revisited.

Authors:  M P Cleek; M B Gardiner; A L Reese; H F Harris; A E Felice; T H Huisman
Journal:  Am J Hum Genet       Date:  1983-11       Impact factor: 11.025

Review 6.  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

Review 7.  The thalassemias: molecular mechanisms of human genetic disease.

Authors:  R A Spritz; B G Forget
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

8.  alpha alpha alpha anti-4.2 Haplotype and heterozygous beta null thalassemia in a Sicilian family.

Authors:  S Acuto; G Butticé; B Saitta; A M Pirrone; R Gambino; C Costa; A Giambona; P Lo Gioco; R Di Marzo; A Maggio
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  A new hemoglobin variant, hemoglobin Nunobiki [alpha 141 (HC3) Arg----Cys]. Notable influence of the carboxy-terminal cysteine upon various physico-chemical characteristics of hemoglobin.

Authors:  S Shimasaki
Journal:  J Clin Invest       Date:  1985-02       Impact factor: 14.808

10.  Alpha-globin gene markers identify genetic differences between Australian aborigines and Melanesians.

Authors:  A S Tsintsof; M S Hertzberg; J F Prior; K N Mickleson; R J Trent
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

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