Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1996-9-25
pubmed:abstractText
Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by hypopigmentation or oculocutaneous albinism and severe immunologic deficiency with neutropenia and lack of natural killer (NK) cell function. Most patients die in childhood from pyogenic infections or an unusual lymphoma-like condition. A hallmark of the disorder is giant inclusion bodies seen in all granule-containing cells, including granulocytes, lymphocytes, melanocytes, mast cells, and neurons. Similar ultrastructural abnormalities occur in the beige mouse, which thus has been suggested to be homologous to human CHS. High-resolution genetic mapping has indicated that the bg gene region of mouse chromosome 13 is likely homologous to the distal portion of human chromosome 1q. Accordingly, we carried out homozygosity mapping using markers derived from distal human chromosome 1q in four inbred families or probands with CHS. Our results indicate that the human CHS gene maps to an 18.8-cM interval in chromosome segment 1q42-q44 and that human CHS therefore is very likely homologous to mouse bg.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-13004553, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-13169161, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-13465231, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-14072577, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-14135410, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-14396888, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-1505962, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-1611094, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-1672300, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-1682216, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-1905299, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-2471408, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-2752114, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-2884728, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-2895730, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-2988747, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-3875797, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-4290695, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-4575899, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-5590154, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-5908967, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-5913047, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-6075990, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-6980677, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-7615972, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-769863, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-7902407, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-8091227, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-8291023, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-8315113, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-8541858, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-865082, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-8673129, http://linkedlifedata.com/resource/pubmed/commentcorrection/8751863-8786094
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
59
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
620-4
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).
pubmed:affiliation
Department of Medical Genetics, University of Wisconsin Medical School, Madison, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't