Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico:: four new G-6-PD variants

被引：20

作者：

Vaca, G

Arámbula, E

Monsalvo, A

Medina, C

Nuñez, C

Sandoval, L

López-Guido, B

机构：

[1] IMSS, Ctr Invest Biomed Occidente, Div Genet, Guadalajara 2, Jalisco, Mexico

[2] Univ Nacl Autonoma Mexico, FES Iztacala, Mexico City 04510, DF, Mexico

[3] Univ Guadalajara, Doctorado Genet Humana, Guadalajara 44430, Jalisco, Mexico

[4] Hosp Pediat, Ctr Med Nacl Occidente, Dept Hematol, Guadalajara, Jalisco, Mexico

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2003年 / 31卷 / 01期

关键词：

glucose-6-phosphate dehydrogenase; mutations; variants; haplotypes; Mexican population;

D O I：

10.1016/S1079-9796(03)00119-0

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 Valladolid(406T), G-6-PD Durham(713G), and G-6-PD Viangchan(871A) 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 Yucatan, 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. (C) 2003 Elsevier Science (USA). All rights reserved.

引用

页码：112 / 120

页数：9

共 29 条

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