DNA haplotypes in the G6PD gene cluster studied in the chinese li population and their relationship to G6PDcanton

Wangwei Cai, Stefania Filosa, Giuseppe Martini

Research output: Contribution to journalArticle

Abstract

In an effort to investigate the subtelomeric region of the X chromosome among Orientals, five DNA sites in the F8C and G6PD genes were analyzed in a sample of 46 chromosomes be-longing to the Chinese Li population, an ethnic group charac-terized by a high prevalence of G6PD deficiency. The DNA sites analyzed, which are highly polymorphic in other popula-tions, have a low degree of heterozygosity in the Li sample and, furthermore, the distribution of the corresponding haplotypes is very different from that previously observed in Italian populations. Interestingly, three unrelated Li G6PD-deficient variants analyzed at the DNA level have the 1376G?T mutation characteristic of G6PDCanton and they share the same haplo- type, including the sites mentioned above, as well as eight DNA polymorphisms in the red/green color vision pigment genes located proximal to G6PD on chromosome X.

Original languageEnglish
Pages (from-to)279-286
Number of pages8
JournalHuman Heredity
Volume44
Issue number5
DOIs
Publication statusPublished - 1994

Keywords

  • Dehydrogenase
  • G6PD mutations
  • Glucose-6-phosphate
  • Haplotypes
  • X chromosome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'DNA haplotypes in the G6PD gene cluster studied in the chinese li population and their relationship to G6PD<sup>canton</sup>'. Together they form a unique fingerprint.

  • Cite this