Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome
| العنوان: | Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome |
|---|---|
| المؤلفون: | Georg Wengler, Fred Rosen, Janice M. Williamson, Jed B. Gorlin, David H. Bing |
| المصدر: | Blood. 85:2471-2477 |
| بيانات النشر: | American Society of Hematology, 1995. |
| سنة النشر: | 1995 |
| مصطلحات موضوعية: | Mutation, Wiskott–Aldrich syndrome, Immunology, CD34, Cell Biology, Hematology, Biology, medicine.disease, medicine.disease_cause, Biochemistry, Virology, Immunodeficiency Syndrome, Androgen receptor, Haematopoiesis, hemic and lymphatic diseases, medicine, Skewed X-inactivation, X chromosome |
| الوصف: | The Wiskott-Aldrich syndrome (WAS) is an X-linked (Xp11.22) recessive immunodeficiency syndrome characterized by susceptibility to opportunistic and pyogenic infections, thrombocytopenia, and eczema. Previous studies of obligate carriers of WAS documented that nonrandom inactivation of the X chromosome carrying the defective gene is observed in all peripheral blood cells. The existence of both abnormal platelets and lymphocytes is consistent with a defect that affects early hematopoietic precursors. We isolated CD34+ hematopoietic progenitor cells collected from obligate carriers of WAS by apheresis and used polymerase chain reaction analysis of a polymorphic variable number of repeats (VNTR) within the X-linked androgen receptor to document nonrandom inactivation. These data show that nonrandom inactivation of the X-chromosome in WAS-obligate carriers occurs early during hematopoietic differentiation. |
| تدمد: | 1528-0020 0006-4971 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::8f02bcf0997cdff41b49b6ede445f1e7 https://doi.org/10.1182/blood.v85.9.2471.bloodjournal8592471 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi...........8f02bcf0997cdff41b49b6ede445f1e7 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15280020 00064971 |
|---|