Title of article :
Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico: four new G-6-PD variants
Author/Authors :
Gerardo Vaca، نويسنده , , Eliakym Arambula، نويسنده , , Alejandro Monsalvo، نويسنده , , Claudina Medina، نويسنده , , Cristina Nunez، نويسنده , , Lucila Sandoval، نويسنده , , Beatriz Lopez-Guido، نويسنده ,
Issue Information :
روزنامه با شماره پیاپی سال 2003
Abstract :
Screening for mutations at the G-6-PD gene by PCR-SSCP combined with restriction enzyme analysis and DNA sequencing was performed in nine G-6-PD deficient individuals with negative results for the presence of the most frequent G-6-PD mutations previously observed in Mexican population. The variants G-6-PD Valladolid406T, G-6-PD Durham713G, and G-6-PD Viangchan871A and four new G-6-PD mutant alleles were identified. The new mutations are located at cDNA nt 376 A → T (126 Asn → Tyr), nt 770 G → T (257 Arg → Leu), nt 1094 G → A (365 Arg → His), and nt 1285 A → G (429 Lys → Glu) and they were named G-6-PD San Luis Potosi, G-6-PD Zacatecas, G-6-PD Veracruz, and G-6-PD Yucatán, respectively. To date, a total of 18 different G-6-PD variants have been observed in Mexico and several of them are common in Africa, South Europe, and Southeast Asia.
Keywords :
haplotypes , glucose-6-phosphate dehydrogenase , Variants , Mexican population , mutations
Journal title :
Blood Cells, Molecules and Diseases
Journal title :
Blood Cells, Molecules and Diseases