Fine mapping and cloning of the breakpoint associated with menkes syndrome in a female patient

G. Giacomo Consalez, Joseph Gecz, Carol L. Stayton, Branka Dabovic, Barbara Pasini, Annalisa Pezzolo, M. Patrizia Bicocchi, Michel Fontes, Giovanni Romeo

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

The gene responsible for Menkes syndrome has been assigned to Xq13 by a combination of comparative mapping and linkage analysis. A previous report has mapped the translocation breakpoint associated with the disease in a female patient to an interval delimited by PGK1 and a group of six more proximal Xq13 markers, including DXS56. We have characterized a number of PGK1- or DXS56-positive YACs, from which we have generated six new markers. One of them identifies a small overlap region between a PGK1-positive YAC and three DXS56-positive YACs, distal to the Menkes breakpoint. A 560-kb region covered by a DXS56-positive YAC has been restriction-mapped and subcloned, disclosing a 187-kb Mlu/itI fragment astride the breakpoint. A probe mapping distal to the rearrangement in the same interval reveals altered PFGE fragments in a hybrid constructed from the translocation patient's DNA. We describe the development of a cosmid contig extending 150 kb from a nearby CpG island across the breakpoint. This contig includes four adjacent clones displaying cross-specific hybridization.

Original languageEnglish
Pages (from-to)557-561
Number of pages5
JournalGenomics
Volume14
Issue number3
DOIs
Publication statusPublished - 1992

Fingerprint

Menkes Kinky Hair Syndrome
Organism Cloning
Cosmids
CpG Islands
Chromosome Mapping
Clone Cells
DNA
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Fine mapping and cloning of the breakpoint associated with menkes syndrome in a female patient. / Consalez, G. Giacomo; Gecz, Joseph; Stayton, Carol L.; Dabovic, Branka; Pasini, Barbara; Pezzolo, Annalisa; Bicocchi, M. Patrizia; Fontes, Michel; Romeo, Giovanni.

In: Genomics, Vol. 14, No. 3, 1992, p. 557-561.

Research output: Contribution to journalArticle

Consalez, G. Giacomo ; Gecz, Joseph ; Stayton, Carol L. ; Dabovic, Branka ; Pasini, Barbara ; Pezzolo, Annalisa ; Bicocchi, M. Patrizia ; Fontes, Michel ; Romeo, Giovanni. / Fine mapping and cloning of the breakpoint associated with menkes syndrome in a female patient. In: Genomics. 1992 ; Vol. 14, No. 3. pp. 557-561.
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