PubMed:1684569 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":183},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":184,"end":287},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":288,"end":440},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":441,"end":651},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":652,"end":847},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":848,"end":1163},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":183},"obj":"Sentence"},{"id":"T2","span":{"begin":184,"end":287},"obj":"Sentence"},{"id":"T3","span":{"begin":288,"end":440},"obj":"Sentence"},{"id":"T4","span":{"begin":441,"end":651},"obj":"Sentence"},{"id":"T5","span":{"begin":652,"end":847},"obj":"Sentence"},{"id":"T6","span":{"begin":848,"end":1163},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":199,"end":215},"obj":"HP_0001873"},{"id":"T2","span":{"begin":909,"end":925},"obj":"HP_0001873"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"1684569-0#72#96#gene7454","span":{"begin":72,"end":96},"obj":"gene7454"},{"id":"1684569-0#98#101#gene7454","span":{"begin":98,"end":101},"obj":"gene7454"},{"id":"1684569-0#179#182#diseaseC0043194","span":{"begin":179,"end":182},"obj":"diseaseC0043194"},{"id":"1684569-5#184#187#gene7454","span":{"begin":1032,"end":1035},"obj":"gene7454"},{"id":"1684569-5#61#77#diseaseC0040034","span":{"begin":909,"end":925},"obj":"diseaseC0040034"}],"relations":[{"id":"72#96#gene7454179#182#diseaseC0043194","pred":"associated_with","subj":"1684569-0#72#96#gene7454","obj":"1684569-0#179#182#diseaseC0043194"},{"id":"98#101#gene7454179#182#diseaseC0043194","pred":"associated_with","subj":"1684569-0#98#101#gene7454","obj":"1684569-0#179#182#diseaseC0043194"},{"id":"184#187#gene745461#77#diseaseC0040034","pred":"associated_with","subj":"1684569-5#184#187#gene7454","obj":"1684569-5#61#77#diseaseC0040034"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":909,"end":925},"obj":"HP:0001873"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":72,"end":96},"obj":"ORDO:906"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":72,"end":96},"obj":"Modifier:D014923"},{"id":"T2","span":{"begin":98,"end":101},"obj":"Modifier:D014923"},{"id":"T3","span":{"begin":179,"end":182},"obj":"SpecificDisease:D014923"},{"id":"T4","span":{"begin":199,"end":215},"obj":"Modifier:D013921"},{"id":"T5","span":{"begin":256,"end":280},"obj":"SpecificDisease:D014923"},{"id":"T6","span":{"begin":282,"end":285},"obj":"SpecificDisease:D014923"},{"id":"T7","span":{"begin":388,"end":391},"obj":"Modifier:D014923"},{"id":"T8","span":{"begin":436,"end":439},"obj":"SpecificDisease:D014923"},{"id":"T9","span":{"begin":544,"end":547},"obj":"Modifier:D014923"},{"id":"T10","span":{"begin":909,"end":925},"obj":"SpecificDisease:D013921"},{"id":"T11","span":{"begin":949,"end":952},"obj":"SpecificDisease:D014923"},{"id":"T12","span":{"begin":1032,"end":1035},"obj":"Modifier:D014923"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":388,"end":391},"obj":"gene:7454"},{"id":"T1","span":{"begin":436,"end":439},"obj":"disease:C0043194"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T488","span":{"begin":72,"end":96},"obj":"Modifier"},{"id":"T489","span":{"begin":98,"end":101},"obj":"Modifier"},{"id":"T490","span":{"begin":179,"end":182},"obj":"SpecificDisease"},{"id":"T491","span":{"begin":199,"end":215},"obj":"Modifier"},{"id":"T492","span":{"begin":256,"end":280},"obj":"SpecificDisease"},{"id":"T493","span":{"begin":282,"end":285},"obj":"SpecificDisease"},{"id":"T494","span":{"begin":388,"end":391},"obj":"Modifier"},{"id":"T495","span":{"begin":436,"end":439},"obj":"SpecificDisease"},{"id":"T496","span":{"begin":544,"end":547},"obj":"Modifier"},{"id":"T497","span":{"begin":909,"end":925},"obj":"SpecificDisease"},{"id":"T498","span":{"begin":949,"end":952},"obj":"SpecificDisease"},{"id":"T499","span":{"begin":1032,"end":1035},"obj":"Modifier"}],"attributes":[{"id":"A488","pred":"database_id","subj":"T488","obj":"D014923"},{"id":"A489","pred":"database_id","subj":"T489","obj":"D014923"},{"id":"A490","pred":"database_id","subj":"T490","obj":"D014923"},{"id":"A491","pred":"database_id","subj":"T491","obj":"D013921"},{"id":"A492","pred":"database_id","subj":"T492","obj":"D014923"},{"id":"A493","pred":"database_id","subj":"T493","obj":"D014923"},{"id":"A494","pred":"database_id","subj":"T494","obj":"D014923"},{"id":"A495","pred":"database_id","subj":"T495","obj":"D014923"},{"id":"A496","pred":"database_id","subj":"T496","obj":"D014923"},{"id":"A497","pred":"database_id","subj":"T497","obj":"D013921"},{"id":"A498","pred":"database_id","subj":"T498","obj":"D014923"},{"id":"A499","pred":"database_id","subj":"T499","obj":"D014923"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T488","span":{"begin":72,"end":96},"obj":"Modifier"},{"id":"T489","span":{"begin":98,"end":101},"obj":"Modifier"},{"id":"T490","span":{"begin":179,"end":182},"obj":"SpecificDisease"},{"id":"T491","span":{"begin":199,"end":215},"obj":"Modifier"},{"id":"T492","span":{"begin":256,"end":280},"obj":"SpecificDisease"},{"id":"T493","span":{"begin":282,"end":285},"obj":"SpecificDisease"},{"id":"T494","span":{"begin":388,"end":391},"obj":"Modifier"},{"id":"T495","span":{"begin":436,"end":439},"obj":"SpecificDisease"},{"id":"T496","span":{"begin":544,"end":547},"obj":"Modifier"},{"id":"T497","span":{"begin":909,"end":925},"obj":"SpecificDisease"},{"id":"T498","span":{"begin":949,"end":952},"obj":"SpecificDisease"},{"id":"T499","span":{"begin":1032,"end":1035},"obj":"Modifier"}],"attributes":[{"id":"A488","pred":"database_id","subj":"T488","obj":"D014923"},{"id":"A489","pred":"database_id","subj":"T489","obj":"D014923"},{"id":"A490","pred":"database_id","subj":"T490","obj":"D014923"},{"id":"A491","pred":"database_id","subj":"T491","obj":"D013921"},{"id":"A492","pred":"database_id","subj":"T492","obj":"D014923"},{"id":"A493","pred":"database_id","subj":"T493","obj":"D014923"},{"id":"A494","pred":"database_id","subj":"T494","obj":"D014923"},{"id":"A495","pred":"database_id","subj":"T495","obj":"D014923"},{"id":"A496","pred":"database_id","subj":"T496","obj":"D014923"},{"id":"A497","pred":"database_id","subj":"T497","obj":"D013921"},{"id":"A498","pred":"database_id","subj":"T498","obj":"D014923"},{"id":"A499","pred":"database_id","subj":"T499","obj":"D014923"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":72,"end":96},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":144,"end":160},"obj":"Modifier"},{"id":"T3","span":{"begin":179,"end":182},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":199,"end":215},"obj":"Modifier"},{"id":"T5","span":{"begin":256,"end":280},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":436,"end":439},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":544,"end":547},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":623,"end":637},"obj":"Modifier"},{"id":"T9","span":{"begin":909,"end":925},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":949,"end":952},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":1032,"end":1035},"obj":"SpecificDisease"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":72,"end":96},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":144,"end":160},"obj":"Modifier"},{"id":"T3","span":{"begin":179,"end":280},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":199,"end":215},"obj":"Modifier"},{"id":"T5","span":{"begin":256,"end":280},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":909,"end":925},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":949,"end":952},"obj":"SpecificDisease"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":72,"end":102},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":144,"end":160},"obj":"Modifier"},{"id":"T3","span":{"begin":179,"end":182},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":199,"end":215},"obj":"Modifier"},{"id":"T5","span":{"begin":256,"end":286},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":388,"end":391},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":436,"end":439},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":544,"end":547},"obj":"Modifier"},{"id":"T9","span":{"begin":623,"end":637},"obj":"Modifier"},{"id":"T10","span":{"begin":909,"end":925},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":949,"end":952},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":1032,"end":1035},"obj":"SpecificDisease"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":72,"end":102},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":144,"end":160},"obj":"Modifier"},{"id":"T3","span":{"begin":179,"end":182},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":199,"end":215},"obj":"Modifier"},{"id":"T5","span":{"begin":256,"end":286},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":388,"end":391},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":436,"end":439},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":544,"end":547},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":623,"end":650},"obj":"DiseaseClass"},{"id":"T10","span":{"begin":805,"end":818},"obj":"DiseaseClass"},{"id":"T11","span":{"begin":834,"end":846},"obj":"DiseaseClass"},{"id":"T12","span":{"begin":909,"end":952},"obj":"CompositeMention"},{"id":"T13","span":{"begin":1032,"end":1035},"obj":"SpecificDisease"}],"text":"Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.\nWe report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway."}