+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants

Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants

American Journal of Hematology 87(2): 208-210

We present a rapid strategy based on Restriction Fragment Length Polymorphism (RFLP) analysis to characterize the more frequent glucose 6-phosphate dehydrogenase (G6PD) variants observed in a population with high gene flow. During a study involving more than 600 patients, we observed mainly G6PD A(-) (c.202G>A, c.376A>G; p.Val68Met, p.Asn126Asp), G6PD Mediterranean (Med) (c.563C>T, p.Ser188Phe), and G6PD Betica (c.376A>G, 542A>T; p.126Asn>Asp, 181Asp>Val) with addition of a few rare ones. A number of 10 abnormalities amounted to 92% of all the molecular defects. In addition, seven new mutations were found: three presented with acute hemolytic anemia following oxidative stress [G6PD Nice (c.1380G>C, p.Glu460Asp), G6PD Roubaix (c.811G>C, p.Val271Leu), and G6PD Toledo (c.496C>T, p.Arg166Cys)], three with different degrees of chronic hemolytic anemia [G6PD Lille (c.821A>T, p.Glu274Val), G6PD Villeurbanne (c.1000_1002delACC, p.Thr334del), and G6PD Amiens (c.1367A>T, p.Asp456Val)] and one found fortuitously G6PD Montpellier (c.1132G>A, p.Gly378Ser).

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 055086930

Download citation: RISBibTeXText

PMID: 22139979

DOI: 10.1002/ajh.22218

Related references

Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A. American Journal of Human Genetics 47(3): 575-579, 1990

Haemolytic anaemia due to glucose-6-phosphate dehydrogenase (G6PD) deficiency: demonstration of two new biochemical variants, G6PD Hamm and G6PD Tarsus. British Journal of Haematology 33(3): 363-370, 1976

Characterization of glucose-6-phosphate dehydrogenase variants. II. G6PD Kephalonia, G6PD Attica, and G6PD "Seattle-like" found in Greece. American Journal of Human Genetics 21(2): 154-167, 1969

Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population. Human Mutation 19(2): 185, 2002

Molecular characterization of glucose 6 phosphate dehydrogenase g6pd deficiency by natural and amplification created restriction sites five mutations account for most g6pd deficiency cases in taiwan. Blood 80(4): 1079-1082, 1992

The first case of a class I glucose-6-phosphate dehydrogenase deficiency, G6PD Santiago de Cuba (1339 G > A), in a Chinese population as found in a survey for G6PD deficiency in northeastern and central China. Acta Medica Okayama 64(1): 49-54, 2010

Severe-glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolytic anemia, granulocyte dysfunction, and increased susceptibility to infections: description of a new molecular variant (G6PD Barcelona). Blood 59(2): 428-434, 1982

Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene. Blood 81(8): 2150-2154, 1993

Hemolytic Potential of Tafenoquine in Female Volunteers Heterozygous for Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency ( G6PD Mahidol Variant) versus G6PD-Normal Volunteers. American Journal of Tropical Medicine and Hygiene 97(3): 702-711, 2017

Frequency of glucose 6-phosphate dehydrogenase (G6PD) deficiency in Tokyo and a new variant: G6PD Musashino. Nihon Ketsueki Gakkai Zasshi 50(1): 25-28, 1987

Glucose-6-phosphate dehydrogenase (G6PD) deficiency in southern Italy: a case of G6PD A(-) associated with favism. Haematologica 74(1): 71-73, 1989

Glucose 6-phosphate dehydrogenase (G6PD) deficiency in elderly Chinese women heterozygous for G6PD variants. American Journal of Medical Genetics. Part a 129a(2): 208-211, 2004

Frequency of glucose 6 phosphate dehydrogenase g6pd deficiency in tokyo japan and a new variant g6pd musashino. Acta Haematologica Japonica 50(1): 25-28, 1987

Cytochemical study of erythrocytic glucose 6 phosphate dehydrogenase g6pd and its usefulness in heterozygous g6pd deficiency detection. Sangre 31(4): 467-475, 1986

A glucose-6-phosphate dehydrogenase (G6PD) splice site consensus sequence mutation associated with G6PD enzyme deficiency. Mutation Research 374(1): 79-87, 1997