Literature DB >> 2094330

Locus assignment of human alpha globin mutations by selective amplification and direct sequencing.

C Dodé1, J Rochette, R Krishnamoorthy.   

Abstract

We describe a simple approach for molecular characterization and locus assignment of structural mutants by direct sequencing of enzymatically amplified DNA selective to alpha 1 and alpha 2 globin gene regions. Nucleotide substitution of two structural variants (Stanleyville II alpha 2(78Lys) and J Mexico alpha 2(54Glu) were determined and their encoding loci were specified. The amplified segment encompasses sequences upstream of the CAAT box to downstream of the Poly(A) addition signal. Hence all of the alpha globin structural variants and most of the nondeletion alpha thalassaemic mutants should be characterizable by this approach.

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Year:  1990        PMID： 2094330     DOI： 10.1111/j.1365-2141.1990.tb07884.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


  13 in total

1.  A laboratory strategy for genotyping haemoglobin H disease in the Chinese.

Authors:  Amy Yuk-Yin Chan; Chi-Chiu So; Edmond Shiu-Kwan Ma; Li-Chong Chan
Journal:  J Clin Pathol       Date:  2006-10-03       Impact factor: 3.411

2.  Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?

Authors:  L C Chan; S K Ma; A Y Chan; S Y Ha; J S Waye; Y L Lau; D H Chui
Journal:  J Clin Pathol       Date:  2001-04       Impact factor: 3.411

3.  Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.

Authors:  B Peral; V Gamble; C Strong; A C Ong; J Sloane-Stanley; K Zerres; C G Winearls; P C Harris
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

4.  Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Authors:  Mark B Consugar; Vickie J Kubly; Donna J Lager; Cynthia J Hommerding; Wai Chong Wong; Egbert Bakker; Vincent H Gattone; Vicente E Torres; Martijn H Breuning; Peter C Harris
Journal:  Hum Genet       Date:  2007-03-22       Impact factor: 4.132

5.  Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population.

Authors:  P Faustino; L Osório-Almeida; J Barbot; D Espírito-Santo; J Gonçalves; L Romão; M C Martins; M M Marques; J Lavinha
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

6.  Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

Authors:  S Rossetti; L Strmecki; V Gamble; S Burton; V Sneddon; B Peral; S Roy; A Bakkaloglu; R Komel; C G Winearls; P C Harris
Journal:  Am J Hum Genet       Date:  2000-12-12       Impact factor: 11.025

7.  The first validated criteria for effective screening and a new simplified method for α-globin gene sequencing for diagnosis of uncommon α-globin mutations.

Authors:  Noppacharn Uaprasert; Rung Settapiboon; Supaporn Amornsiriwat; Pranee Sutcharitchan; Ponlapat Rojnuckarin
Journal:  Int J Hematol       Date:  2017-02-06       Impact factor: 2.490

8.  Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

Authors:  B Peral; J L San Millán; A C Ong; V Gamble; C J Ward; C Strong; P C Harris
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

9.  Hb H disease resulting from the association of an α-thalassemia allele [-(α)] with an unstable α-globin variant [Hb Icaria]: First report on the occurrence in Brazil.

Authors:  Elza M Kimura; Denise M Oliveira; Kleber Fertrin; Valéria R Pinheiro; Susan E D C Jorge; Fernando F Costa; Maria de Fátima Sonati
Journal:  Genet Mol Biol       Date:  2009-12-01       Impact factor: 1.771

10.  Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation.

Authors:  Dewi Megawati; Ita M Nainggolan; Maria Swastika; Susi Susanah; Johanes C Mose; Alida R Harahap; Iswari Setianingsih
Journal:  Hemoglobin       Date:  2013-12-18       Impact factor: 0.849
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