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From www.bloodjournal.org by guest on June 17, 2017. For personal use only. 3767 CORRESPONDENCE Glucose-6-Phosphate Dehydrogenase(GGPD) Mutations Associated With F8C/G6PD Haplotypes in Chinese To the Editor: Glucose-6-phosphate dehydrogenase (G6PD) deficiency isthe most common human disease producing red blood cell enzyme deficiency.’ Nearly 400 biochemical variants have been described, but less than 70 mutations have been identified attheDNA level. We2-5and others”’ have previously shown that at least nine different types of mutation are responsible for G6PD deficiency in the Chinese population of Taiwan. The finding that several polymorphic sites are located near or within the G6PD gene may provide a haplotype pattern that would enable us to analyze the linkage disequilibrium between mutations and polymorphisms. The F8C/G6PD (coagulation factor VIIIc/G6PD) haplotype” spanning the Xq28 region from coagulation factor VIIIc to the G6PD genes was investigated. We have studied four polymorphic sites from this region in 66 Chinese who carry known G6PD mutations. These polymorphic sites include (1) the Hind111 site in intron 19 of the factor VI11 gene,” (2) the 1311 C-tT mutation ofthe G6PD gene,” (3) the polymorphic Nlu I11 site in intron 11 of the G6PD gene,” and (4) the polymorphic EcoRI site located 20 kb downstream of the G6PD gene.l4 Table 1 shows that most mutations found in Chinese are mainly associated with haplotype VI + VII, ie, -- - + (FSHindIII/131l/Nlu IWEcoRI), except for three types of mutation that occur at nucleotide (nt) positions 392, 871, and 1376 that appear to be associated with different haplotypes. For example, 29 of 31 Chinese subjects with the 1376 mutation are mainly associated with haplotype 111, whereas all of the 871 mutation cases are linked to a novel haplotype that we name here haplotype XI that has not been reported before. Interestingly, our unpublished data show that haplotype VI + VI1 is the dominant haplotype that accounts for nearly 80% of the normal Chinese population in Taiwan (manuscript in preparation). These findings support the hypothesis that mutations occurring at nt positions 95, 487, 493, 1024, 1360, and 1388 could a l r k derived from an ancient haplotype VI + VII. The 1376 mutation was found to be not only associated with haplo- type III (29 cases) but also linked to two other haplotypes (1 case in haplotype I and 1 case in haplotype VI + VII). This result suggested that the mutation at nt 1376 may have arisen repeatedly or a crossingover event may have occurred between F8C and the M P D gene or within the G6PD gene itself. In addition, by comparative analysis of the association between the 871 mutation and the 1311 polymorphic site, we found that Chinese subjects who carry the 871 mutation have Viang~han”’~ (a T at nt1311, as waspreviouslyfoundinG6PD Laotian).l5In contrast, G6PD J a m m ~ ” ’(a~ variant originally detected in an Indiansubject)”has a C at nt 131 1, suggestingthatthe871 Table 1. Linkage Analysis Between Mutations and FBCIGGPD Haplotypes in Chinese Subjects From Taiwan GGPD Mutations 95A-G 392G+T 487 G + A 493A-G 871 G - A 1024C-T 1360C-T 1376 G + T 1388 G + A N FBHindlll 1311T Nla Ill EcoRl 6 3 1 8 3 7 2 29 1 1 4 1 - - - + - - + + + + + - - - - - - Haplotypes’ VI Ill VI VI XI VI VI 111 + VI1 + VI1 - + + - - - - - - + - - - - - + VI - - - + + VI 111 + + + + + + + + + VI1 + VI1 + VI1 + VI1 I - + VI1 ”+“ indicates if restriction site is present or if 1311 C T mutation is present. n indicates the number of affected male subjects analyzed. * The F8C/G6PD haplotypes were named as described by Filosa et al.’” Because we did not analyze the polymorphic Xba I site in F8C gene, haplotyes VI and VI1 cannot be distinguished in our studies. From www.bloodjournal.org by guest on June 17, 2017. For personal use only. CORRESPONDENCE 3768 mutations may have arisen separately.Our findmgs are consistent with whoanalyzedtheG6PDhaplotypethat that reported byXu et carried different polymorphic sites located at intron 5 (Pvu II), nt 11 16 (Pst I), nt 1311, and intron 11 (Ma III) of the G6PD gene. Finally,we found that most 1388 mutations were associated with haplotype VI + VII, whereas only 1 case was found to be associated with haplotype III. This particular case could$ave been generated by a recombination event that took place somewhere between F8C and G6PD genes at a later stage. In summary, we have analyzed the association between G6PD mutations and F8CIG6PD haplotypes and found a strong linkage disequilibrium between some of the G6PD mutations and F8C/ G6PD haplotypes. This information may provide some useful information for tracing the diversity of various ethnic populations in the world. ACKNOWLEDGMENT This work is supported by an Institutional grant from Academia Sinica and by a grant from the National Science Council, Republic of China. The authors thank Ching-Shan Huang and May-Jen Huang for making available samples for study. Part of this work was included in the thesis of Te-Hui Liu for Master of Science, Department of Zoology, National Taiwan University. Tang K. Tang Te-Hui Liu Chieh-Ju Chang Tang Ka-Bik Tam Institute of Biomedical Sciences Academia Sinica Taipei, Taiwan China REFERENCES 1. Beutler E G6PD deficiency. Blood 84:3613, 1994 2. Tang TK, Huang CS, Huang MJ, Tam KB,Yeh CH, Tang CJC: Diverse point mutations result in glucose-6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan. Blood 79:2135, 1992 3. Chang JG, Chiou SS, Perng LI, Chen TC, Liu TC, Lee LS, Chen PH, Tang TK: 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 80:1079, 1992 4. Tang TK, Yeh CH, Huang CS, Huang MJ: Expression and biochemical characterization of human glucose-6-phosphate dehydrogenase in Escherichia coli: A system to analyze normaland mutant enzymes. Blood 83:1436, 1994 5. Tang TK, Huang W, TangCJC, Hsu M,Cheng TA, Chen KH: Molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency in three Taiwan aboriginal tribes. Hum Genet (in press) 6. Chao L, Du CS, Louie E, Zuo L, Chen E, Lubin B, Chiu DTY: A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese. Nucleic Acids Res 19:6056, 1991 7.Chiu DTY, Zuo L, Chen E, ChaoL,Louie E, LubinB,Liu T Z , Du CS: Two commonly occumng nucleotide base substitutionsin Chinese G6PD variants. Biochem Biophys Res Commun 180988,1991 8. Chiu DTY, Zuo L. Chao L, Chen E, Louie E, Lubin B, Liu TZ, Du CS: Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in human G6PD gene. Blood 81:21SO, 1993 9. Perng LI, Chiou SS, Liu TC, Chang JG: A novel C to T substitution at nucleotide 1360 of cDNA which abolishes a natural Hha I site accounts for a new G6PD deficiency gene in Chinese. HumMol Genet 1:205, 1992 IO. Filosa S, Calabro V , Lania G, Vulliamy TJ, Brancati C, Tagarelli A, Luzzatto L, Martini G: G6PD haplotypes spanning Xq28 from F8C to red/green color vision. Genomics 17:6, 1993 I I . AhrensP,Kruse TA, Schwartz M, Rasmussen PB,Din N: A new Hind 111 restriction fragment length polymorphism in the hemophilia A locus. Hum Genet 76:127, 1987 12. Beutler E, Kuhl W: The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. Am J Hum Genet 47:1008, 1990 13. Beutler E, Westwood B, Sipe B: A new polymorphic site in the G6PD gene. Hum Genet 89:485, 1992 14. Maesttini E, kvella S, Tribioli C, RocchiM, Camerino G, Santachiara-Benerecetti S, Parocini 0. Notarangelo LD, Toniolo D: Identification of a novel RFLP in the vicinity of CpG island in Xq28: Application to the analysis of the pattern of X-chromosome inactivation. Am J Hum Genet 50:156, 1992 15. Beutler E, Westwood B, Kuhl W: Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD LeJeune. Acta Haematol 86: 179, 1991 16. Xu W, Westwood B, Bartsocas CS, Malcorra-Azpiazu JJ, Indrak K, Beutler E: Glucose-6-phosphate dehydrogenase mutations and haplotypes in various ethnic groups. Blood 85:257, 199.5 From www.bloodjournal.org by guest on June 17, 2017. For personal use only. 1995 85: 3767-3768 Glucose-6-phosphate dehydrogenase (G6PD) mutations associated with F8C/G6PD haplotypes in Chinese [letter] TK Tang, TH Liu, CJ Tang and KB Tam Updated information and services can be found at: http://www.bloodjournal.org/content/85/12/3767.citation.full.html Articles on similar topics can be found in the following Blood collections Information about reproducing this article in parts or in its entirety may be found online at: http://www.bloodjournal.org/site/misc/rights.xhtml#repub_requests Information about ordering reprints may be found online at: http://www.bloodjournal.org/site/misc/rights.xhtml#reprints Information about subscriptions and ASH membership may be found online at: http://www.bloodjournal.org/site/subscriptions/index.xhtml Blood (print ISSN 0006-4971, online ISSN 1528-0020), is published weekly by the American Society of Hematology, 2021 L St, NW, Suite 900, Washington DC 20036. 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