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PMID: 3924593 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3.

The EMBO journal ·Vol. 4 ·No. 3 ·1985-03-00 ·Pages 725-9

Purrello M, Alhadeff B, Esposito D, Szabo P, Rocchi M, Truett M, Masiarz F, Siniscalco M

Abstract

Two DNA recombinant clones, shown by separate studies to contain DNA sequences homologous to the genes coding for the human blood coagulation Factors VIII and IX, were hybridized in situ to metaphases or prometaphases derived from patients with the fragile-X syndrome and from a normal control. The results of these experiments indicate that (i) both genes are located in the subtelomeric region of the long arm of the human X chromosome flanking the fragile site at Xq27.3, (ii) the resolution of this localization is approximately 0.5% the length of the human haploid genome, i.e., 1.8 X 10(7) bp, (iii) the linear order of loci within the above region is Factor IX-fragile site-Factor VIII-Xqter. Both the localization and the linear order of these loci have been confirmed by Southern blotting studies using the same molecular probes and a panel of rodent-human somatic cell hybrids known to have retained different segments of the human X chromosome. The findings described herein and the knowledge that Factor IX deficiency recombines freely with at least two loci of the G6PD cluster support our hypothesis that the chromosomal region which includes the fragile-X site is normally a region of high meiotic recombination.

MeSH Terms
Chromosome Mapping Factor IX/genetics Factor VIII/genetics Fragile X Syndrome/genetics Genetic Linkage Glucosephosphate Dehydrogenase/genetics Hemophilia A/genetics Hemophilia B/genetics Humans Nucleic Acid Hybridization Sex Chromosome Aberrations/genetics
Chemicals
Factor VIII Factor IX Glucosephosphate Dehydrogenase
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Purrello M
Alhadeff B
Esposito D
Szabo P
Rocchi M
Truett M
Masiarz F
Siniscalco M
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Article Info
Journal
The EMBO journal
Abbr.
EMBO J
ISSN
0261-4189
Published
1985-03-00
Pages
725-9
Language
English
Region
England
NLM ID
8208664
PMCID
PMC554248
Subset
IM
Grants
NICHD NIH HHS · HD16782 · United States
External Links
PubMed source PMC Full Text View journal details
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