Sequence and gene content in 52 kb including and centromeric to the g6PD gene in xq28

Massimo Zollo, Richard Mazzarella, Silvia Bione, Daniela Toniolo, David Schlessinger, Michele D'urso, Ellson Y. Chen

Research output: Contribution to journalArticlepeer-review


A cosmid containing 36.4 kb of high GC human DNA centromeric to the G6PD gene has been analyzed. The sequence was 99.9% precise, based on the comparison of 4.3 kb that overlaps an earlier analysis of 20.1 kb containing G6PD. Properties of the entire 52 kb region that may be characteristic of high GC portions of the genome include a very high density of sixty-two half or full Alu sequences, or 1,2/kb, and an absence of L1 sequences. Other highly repetitive sequences include 11 MER sequences, one of them interrupted at two positions by groups of 3 Alu elements. In segments of unique sequence, computer-aided analysis predicted three possible genes, one of which has thus far been confirmed by the recovery of a corresponding cDNA, both by a direct hybridization method and by a PCR-based method based on a primer pair inferred from the genomic sequence. The cDNA has been sequenced, and is completely concordant with counterpart genomic sequence; it has no resemblance to any previously described gene.

Original languageEnglish
Pages (from-to)1-11
Number of pages11
JournalMitochondrial DNA
Issue number1
Publication statusPublished - 1995


  • G6PD gene
  • Gene organization
  • Gene structure
  • Xq28

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Biochemistry
  • Endocrinology


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