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PMID: 3471705 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present.

Human genetics ·Vol. 76 ·No. 1 ·1987-05-00 ·Pages 54-7

Schwartz C, Fitch N, Phelan MC, Richer CL, Stevenson R

Abstract

Two sisters with premature menopause and a small deletion of the long arm of one of their X chromosomes [del (X)(pter----q26.3:)] were investigated with polymorphic DNA probes near the breakpoint. The deleted chromosome retained the factor IX (F9) locus and the loci DXS51 (52A) and DXS100 (pX45h), which are proximal to F9. However, the factor VIII (F8) locus was not present, nor were two loci tightly linked to this locus, DXS52 (St14) and DXS15 (DX13). This deletion refines the location of the F9 locus to Xq26 or to the interface Xq26/Xq27, thus placing it more proximally than has been previously reported. The DNA obtained from these patients should be valuable in the mapping of future probes derived from this region of the X chromosome.

MeSH Terms
Adult Chromosome Banding Chromosome Deletion Chromosome Mapping DNA/genetics Factor IX/genetics Female Genetic Linkage Genetic Markers Humans Karyotyping X Chromosome
Chemicals
Genetic Markers Factor IX DNA
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Schwartz C
Fitch N
Phelan M C
Richer C L
Stevenson R
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34 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00283050
Published
1987-05-00
Pages
54-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00283050 View journal details
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