Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly
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DOI：
10.1182/blood-2010-12-322990
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发表时间：
2011-03-24
期刊：
影响因子：
20.3
通讯作者：
Di Paola, Jorge
中科院分区：
文献类型：
--
作者：
Fabbro, Shay;Kahr, Walter H. A.;Di Paola, Jorge
灰色血小板综合征（GPS）是一种遗传性出血性疾病，其特征是血小板减少和血小板中缺乏α颗粒。GPS患者表现为轻度至中度出血，许多人发展为骨髓纤维化。GPS的遗传原因尚不清楚。我们提出了2个美洲原住民家庭，共有5个受影响的人和一个受影响的巴基斯坦裔患者，GPS似乎是以常染色体隐性方式遗传。使用Affysse6.0芯片的纯合性作图表明，所有6个GPS受影响的人都是纯合的3 p21中的1.7 Mb区域。连锁分析证实了该地区的对数的赔率得分为2.7。来自我们家族的数据使我们能够从先前报道的3 p21的9.4 Mb区域显著减小GPS关键区域的大小。（血。2011; 117（12）：3430-3434）
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by thrombocytopenia and the absence of alpha-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. (Blood. 2011; 117(12):3430-3434)