Department of Pediatrics and Genetics, University of Colorado, Denver, CO, USA.
Blood. 2011 Mar 24;117(12):3430-4. doi: 10.1182/blood-2010-12-322990. Epub 2011 Jan 24.
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by thrombocytopenia and the absence of α-granules in platelets. Patients with GPS present with mild to moderate bleeding and many develop myelofibrosis. The genetic cause of GPS is unknown. We present 2 Native American families with a total of 5 affected persons and a single affected patient of Pakistani origin in which GPS appears to be inherited in an autosomal recessive manner. Homozygosity mapping using the Affymetrix 6.0 chips demonstrates that all 6 GPS-affected persons studied are homozygous for a 1.7-Mb region in 3p21. Linkage analysis confirmed the region with a logarithm of the odds score of 2.7. Data from our families enabled us to significantly decrease the size of the critical region for GPS from the previously reported 9.4-Mb region at 3p21.
格雷血小板综合征 (GPS) 是一种遗传性出血性疾病，其特征为血小板减少症和血小板中缺乏α-颗粒。GPS 患者表现为轻度至中度出血，许多患者发展为骨髓纤维化。GPS 的遗传原因尚不清楚。我们介绍了 2 个具有血缘关系的美籍印第安人家族，共 5 名受影响者和 1 名来自巴基斯坦的单一受影响者，GPS 似乎以常染色体隐性方式遗传。使用 Affymetrix 6.0 芯片进行的纯合子作图表明，研究的所有 6 名 GPS 受影响者均为 3p21 中 1.7Mb 区域的纯合子。连锁分析证实该区域的对数优势得分为 2.7。来自我们家族的资料使我们能够将 GPS 的关键区域从先前报道的 3p21 处的 9.4Mb 区域显著缩小。
