title: Molecular Epidemiological Survey of Glucose-6-Phosphate Dehydrogenase Deficiency and Thalassemia in Uygur and Kazak Ethnic Groups in Xinjiang, Northwest China.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency and thalassemia occur frequently in tropical and subtropical regions, while the prevalence of relationship between the two diseases in Xinjiang has not been reported. We aimed to determine the prevalence of these diseases and clarify the relationship between genotypes and phenotypes of the two diseases in the Uygur and Kazak ethnic groups in Xinjiang. We measured G6PD activity by G6PD:6PGD (glucose acid-6-phosphate dehydrogenase) ratio, identified the gene variants of G6PD and α- and β-globin genes by polymerase chain reaction (PCR)-DNA sequencing and gap-PCR and compared these variants in different ethnic groups in Xinjiang with those adjacent to it. Of the 149 subjects with molecular analysis of G6PD deficiency conducted, a higher prevalence of the combined mutations c.1311C > T/IVSXI + 93T > C and IVSXI + 93T > C, both with normal enzymatic activities, were observed in the Uygur and Kazak subjects. A case of rare mutation HBB: c.135delC [codon 44 (-C) in the heterozygous state], a heterozygous case of HBB: c.68A > G [Hb G-Taipei or β22(B4)Glu→Gly] and several common single nucleotide polymorphisms (SNPs) were found on the β-globin gene. In conclusion, G6PD deficiency with pathogenic mutations and three common α-thalassemia (α-thal) [- -(SEA), -α(3.7) (rightward), -α(4.2) (leftward)] deletions and point mutations of the α-globin gene were not detected in the present study. The average incidence of β-thalassemia (β-thal) in Uygurs was 1.45% (2/138) in Xinjiang. The polymorphisms of G6PD and β-globin genes might be useful genetic markers to trace the origin and migration of the Uygur and Kazak in Xinjiang.
authors.affiliation: a Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University , Guangzhou , People's Republic of China and.
authors.forename: Luhao
authors.initials: L
authors.lastname: Han
authors.affiliation: b Department of Clinical Laboratory Medicine, The First Financial Aid Hospital of Xinjiang Uygur Autonomous Region , Xinjiang , People's Republic of China.
authors.forename: Hai
authors.initials: H
authors.lastname: Su
authors.affiliation: b Department of Clinical Laboratory Medicine, The First Financial Aid Hospital of Xinjiang Uygur Autonomous Region , Xinjiang , People's Republic of China.
authors.forename: Hao
authors.initials: H
authors.lastname: Wu
authors.affiliation: a Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University , Guangzhou , People's Republic of China and.
authors.forename: Weiying
authors.initials: W
authors.lastname: Jiang
authors.affiliation: a Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University , Guangzhou , People's Republic of China and.
authors.forename: Suqin
authors.initials: S
authors.lastname: Chen
mesh_terms: D002681:China / Q000453:epidemiology / Q000208:ethnology; D005787:Gene Frequency; D056726:Genetic Association Studies; D014644:Genetic Variation / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D017720:Molecular Epidemiology / Q000379:methods*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D013789:Thalassemia / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D055542:alpha-Globins / Q000235:genetics; D055544:beta-Globins / Q000235:genetics
chemical_list: D055542:alpha-Globins; D055544:beta-Globins
keywords: Glucose-6-phosphate dehydrogenase (G6PD); Kazak; Uygur; mutations; single nucleotide polymorphisms (SNPs); thalassemia