Linkage analysis in von Willebrand disease.
Linkage analysis in von Willebrand disease.
复制标题
冯·维勒布兰德病的连锁分析。
DOI：
10.1111/j.1399-0004.1983.tb00099.x
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发表时间：
1983
影响因子：
3.5
通讯作者：
Simpson,JL
中科院分区：
文献类型：
--
作者：
Verp,MS;Radvany,RM;Green,D;Conneally,PM;Patel,VA;Martin,AO;Simpson,JL
我们研究了一个3代家庭，以确定导致一种形式的von Willebrand病(VWD)的基因是否与1)HLA基因座或2)血清酶或红细胞抗原的多态基因座相关联。对12例受累家系成员进行了单倍型分析，其中10例采用直接分析法，2例采用推断法。12个受影响的人中有7个是A2，B7，而9个未受影响的人中只有0个。然而，当重组频率为0.2时，最大Lod评分仅为0.41。在所研究的17个血清红细胞和血浆蛋白标志物中，5个(Kell、ADA、AK1、BF、GC)没有分离，12个(ABO、Rh、JK、FY、P、PGM1、ACPI、ESD、GLOL、MN、HP、GPT)的Lod评分<+1.0。我们的结论是，没有强有力的证据表明vWD的基因座与所研究的任何标记之间存在关联。
We studied a 3‐generation kindred to determine whether the gene responsible for one form of von Willebrand disease (vWD) is linked to 1) the HLA locus, or 2) a polymorphic locus for a serum enzyme or red cell antigen. HLA haplotypes were determined in 12 affected family members, in 10 cases by direct analysis and in 2 cases by deduction. Seven of 12 affected individuals were A2, B7, as compared to 0 of 9 unaffected. However, the maximum lod score was only 0.41 at a recombination frequency of 0.2. Of the 17 serum red cell and plasma protein markers studied, 5 (Kell, ADA, AK1, BF, GC) did not segregate, and 12 (ABO, Rh, JK, Fy, P, PGM1, ACPI, ESD, GLOl, MN, HP, GPT) gave lod scores less than +1.0. We conclude that there is no strong evidence for linkage between the locus for vWD and any of the markers studied.