镰状细胞贫血患者β-珠蛋白基因座控制区（LCR）的种族间多态性。
Inter-ethnic polymorphism of the beta-globin gene locus control region (LCR) in sickle-cell anemia patients.
作者信息
Périchon B, Ragusa A, Lapouméroulie C, Romand A, Moi P, Ikuta T, Labie D, Elion J, Krishnamoorthy R
机构信息
INSERM U120, Hôpital Robert Debré, Paris, France.
出版信息
Hum Genet. 1993 Jun;91(5):464-8. doi: 10.1007/BF00217773.
PMID:8314558
Abstract
Sequence polymorphisms within the 5'HS2 segment of human locus control region is described among sickle cell anemia patients. Distinct polymorphic patterns of a simple sequence repeat are observed in strong linkage disequilibrium with each of the five major beta s haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.
摘要
在镰状细胞贫血患者中描述了人类基因座控制区5'HS2片段内的序列多态性。观察到一个简单序列重复的不同多态模式与五种主要βs单倍型中的每一种都处于强连锁不平衡状态。讨论了该多态区域在珠蛋白基因表达中的潜在功能相关性。
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