血红蛋白斯坦利维尔II（α78天冬酰胺→赖氨酸）与一个3.7千碱基对的α珠蛋白基因缺失相关。
Hemoglobin Stanleyville II (alpha 78 Asn----Lys) is associated with a 3.7-kb alpha-globin gene deletion.
作者信息
Costa F F, Sonati M F, Zago M A
机构信息
Department of Clinical Medicine, School of Medicine, Ribeirão Preto, SP, Brazil.
出版信息
Hum Genet. 1991 Jan;86(3):319-20. doi: 10.1007/BF00202420.
PMID:1671772
Abstract
A family with one homozygote and three heterozygotes for hemoglobin Stanleyville II (alpha 78 Asn----Lys) has been analyzed by alpha-globin gene mapping. The pattern of restriction fragments with the enzymes BamHI and BglII demonstrated that the alpha globin variant is associated with a 3.7-kb alpha-globin gene deletion.
摘要
通过α珠蛋白基因图谱分析了一个血红蛋白斯坦利维尔II型（α78天冬酰胺→赖氨酸）的纯合子和三个杂合子的家族。用BamHI和BglII酶切得到的限制性片段模式表明，α珠蛋白变体与一个3.7kb的α珠蛋白基因缺失有关。
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