在一个患有1型夏科-马里-图斯病常染色体显性遗传的大家族中，达菲血型与α-血影蛋白基因座相关。
The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1.
作者信息
Raeymaekers P, Van Broeckhoven C, Backhovens H, Wehnert A, Muylle L, De Jonghe P, Gheuens J, Vandenberghe A
机构信息
Department of Biochemistry, University of Antwerp UIA, WiLrijk, Belgium.
出版信息
Hum Genet. 1988 Jan;78(1):76-8. doi: 10.1007/BF00291239.
The alpha-spectrin locus (SPTA) on chromosome 1 maps to 1q22-q25 and alpha-spectrin specific probes detect restriction fragment length polymorphisms (RFLPs) with the endonucleases MspI and PvuII. The Duffy blood group (FY) has been mapped to the 1p21-q23 region. We found positive linkage between the alpha-spectrin and the Duffy loci with a maximal Lod score of 3.81 at theta = 0.0 using the computer program MLINK. This indicates that both loci are very closely linked and probably localized to 1q22-q23.
位于1号染色体上的α-血影蛋白基因座（SPTA）定位于1q22 - q25，α-血影蛋白特异性探针可检测到用核酸内切酶MspI和PvuII产生的限制性片段长度多态性（RFLP）。达菲血型（FY）已被定位于1p21 - q23区域。我们使用计算机程序MLINK发现α-血影蛋白基因座和达菲基因座之间存在正连锁，在θ = 0.0时最大优势对数得分为3.81。这表明这两个基因座紧密连锁，可能定位于1q22 - q23。
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