Literature DB >> 3236367

Localisation of human alpha globin to 16p13.3----pter.

V J Buckle1, D R Higgs, A O Wilkie, M Super, D J Weatherall.   

Abstract

A female child with alpha thalassaemia trait, moderate mental retardation, and dysmorphic features has inherited an abnormal chromosome 16 complement as a result of the unbalanced segregation of a maternal balanced translocation. Cytogenetic analysis indicates that the patient is monosomic for 16p13.3----pter and trisomic for 10q26.13----qter. DNA studies show that the patient has not inherited either maternal alpha globin allele. This accounts for the alpha thalassaemia trait in the child and places the human alpha globin complex in band 16p13.3----pter.

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Year:  1988        PMID： 3236367      PMCID： PMC1051615          DOI： 10.1136/jmg.25.12.847

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  11 in total

1.  Mapping the human alpha globin gene complex to 16p13.2----pter.

Authors:  R N Simmers; J C Mulley; V J Hyland; D F Callen; G R Sutherland
Journal:  J Med Genet       Date:  1987-12       Impact factor: 6.318

2.  A genetic linkage map of the human genome.

Authors:  H Donis-Keller; P Green; C Helms; S Cartinhour; B Weiffenbach; K Stephens; T P Keith; D W Bowden; D R Smith; E S Lander
Journal:  Cell       Date:  1987-10-23       Impact factor: 41.582

3.  Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay.

Authors:  A Deisseroth; A Nienhuis; P Turner; R Velez; W F Anderson; F Ruddle; J Lawrence; R Creagan; R Kucherlapati
Journal:  Cell       Date:  1977-09       Impact factor: 41.582

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

Authors:  A P Jarman; D R Higgs
Journal:  Am J Hum Genet       Date:  1988-09       Impact factor: 11.025

5.  Construction of a chromosome 16-enriched phage library and characterization of several DNA segments from 16p.

Authors:  P Harris; M Lalande; H Stroh; G Bruns; A Flint; S A Latt
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132

6.  High resolution gene mapping of the human alpha globin locus.

Authors:  R D Nicholls; J A Jonasson; J O McGee; S Patil; V V Ionasescu; D J Weatherall; D R Higgs
Journal:  J Med Genet       Date:  1987-01       Impact factor: 6.318

7.  Globin synthesis in thalassaemia: an in vitro study.

Authors:  D J Weatherall; J B Clegg; M A Naughton
Journal:  Nature       Date:  1965-12-11       Impact factor: 49.962

Review 8.  A "reverse genetic" approach to autosomal dominant polycystic kidney disease.

Authors:  S T Reeders
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

9.  Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

Authors:  D J Weatherall; D R Higgs; C Bunch; J M Old; D M Hunt; L Pressley; J B Clegg; N C Bethlenfalvay; S Sjolin; R D Koler; E Magenis; J L Francis; D Bebbington
Journal:  N Engl J Med       Date:  1981-09-10       Impact factor: 91.245

10.  Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster.

Authors:  A P Jarman; R D Nicholls; D J Weatherall; J B Clegg; D R Higgs
Journal:  EMBO J       Date:  1986-08       Impact factor: 11.598
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  10 in total

Review 1.  Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.

Authors:  M P Harvey; A Kearney; A Smith; R J Trent
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

Review 2.  Mouse chromosome 11.

Authors:  A M Buchberg; M S Buckwalter; S A Camper
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 3.  Mouse chromosome 11.

Authors:  A M Buchberg; J J Moskow; M S Buckwalter; S A Camper
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

4.  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

5.  CpG islands from the alpha-globin gene cluster increase gene expression in an integration-dependent manner.

Authors:  B M Shewchuk; R C Hardison
Journal:  Mol Cell Biol       Date:  1997-10       Impact factor: 4.272

6.  The molecular basis of α-thalassemia.

Authors:  Douglas R Higgs
Journal:  Cold Spring Harb Perspect Med       Date:  2013-01-01       Impact factor: 6.915

7.  A general diagram of the human genome.

Authors:  R Cruz-Coke
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

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.  Healing of broken human chromosomes by the addition of telomeric repeats.

Authors:  J Flint; C F Craddock; A Villegas; D P Bentley; H J Williams; R Galanello; A Cao; W G Wood; H Ayyub; D R Higgs
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025
  10 in total

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