Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1990-6-20
pubmed:abstractText
The Wiskott-Aldrich syndrome (IMD2) is an X-linked recessive immunodeficiency. Initial linkage studies mapped the disease locus on the proximal short arm of the X chromosome, a localization which was further refined to the interval framed by DXS7 and DXS14. We have recently shown that a novel hypervariable locus, DXS255, is very closely linked to the disease gene and is likely to be, at present, the marker closest to the disease gene. The analysis of one family, however, displayed conflicting linkage results, as all of the informative markers situated in the Xp11-q22 region appeared to recombine with the disease locus in two "phase-known" meioses. We have shown by X-inactivation studies that the segregation of the disease through three obligate carrier females in this family originates from a grandpaternal mosaicism, which accounts for the apparent recombinations. This shows that germ-line mosaicism can simulate genetic heterogeneity in linkage studies.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-13133561, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2521952, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2563349, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2563352, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2570025, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2571563, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2574264, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2676379, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2784859, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2843770, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2881637, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2887283, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2889144, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2889145, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2889662, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2891116, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2901224, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2903663, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-2906042, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-3002952, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-3025634, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-3052049, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-3263154, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-3341380, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-3346017, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-3472214, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-347289, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-3502688, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-3507278, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-3572301, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-6101415, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-6118760, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-6349887, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-6507475, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-6507476, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-6547160, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-6587361, http://linkedlifedata.com/resource/pubmed/commentcorrection/1971143-6627718
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
46
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
906-11
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.
pubmed:affiliation
Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Unité 184 de l'INSERM, Faculté de Médecine, Strasbourg.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't