Literature DB >> 1459579

Glucose-6-phosphate dehydrogenase variants in Hawaii.

E Beutler1, B Westwood, W Kuhl, Y E Hsia.   

Abstract

Sequence analysis has been performed on the DNA of 13 glucose-6-phosphate dehydrogenase (G6PD) deficient males from Hawaii, 6 of Filipino, 6 of Laotian, and 1 of Chinese extraction. Four different mutations were found: A-->T at cDNA nt 835, G-->A at nt 871, C-->T at nt 1360, and G-->A at nt 1388. The mutations at nt 835 and nt 1360 have not been described previously, and the latter, in particular, appears to be relatively common. The nt 1360 mutation changes the same codon as is altered in a previously described mutation, G6PD Andalus.

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Year:  1992        PMID: 1459579     DOI: 10.1159/000154092

Source DB:  PubMed          Journal:  Hum Hered        ISSN: 0001-5652            Impact factor:   0.444


  5 in total

1.  Evidence for balancing selection from nucleotide sequence analyses of human G6PD.

Authors:  Brian C Verrelli; John H McDonald; George Argyropoulos; Giovanni Destro-Bisol; Alain Froment; Anthi Drousiotou; Gerard Lefranc; Ahmed N Helal; Jacques Loiselet; Sarah A Tishkoff
Journal:  Am J Hum Genet       Date:  2002-10-11       Impact factor: 11.025

2.  A new polymorphic site in the G6PD gene.

Authors:  E Beutler; B Westwood; B Sipe
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

3.  Glucose-6-phosphate dehydrogenase variants associated with favism in Thai children.

Authors:  Vichai Laosombat; Benjamas Sattayasevana; Teerachit Chotsampancharoen; Malai Wongchanchailert
Journal:  Int J Hematol       Date:  2006-02       Impact factor: 2.490

4.  Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii.

Authors:  Y E Hsia; F Miyakawa; J Baltazar; N S Ching; J Yuen; B Westwood; E Beutler
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

5.  Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening.

Authors:  Marcela Vela-Amieva; Miguel Angel Alcántara-Ortigoza; Ariadna González-Del Angel; Leticia Belmont-Martínez; Carlos López-Candiani; Isabel Ibarra-González
Journal:  Orphanet J Rare Dis       Date:  2021-02-26       Impact factor: 4.123

  5 in total

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