[东德血友病A和B风险家系中基因携带者诊断的初步结果]

[Initial results of genetic carrier diagnosis in risk pedigrees with hemophilia A and B in East Germany].

作者信息

Wehnert M, Herrmann F H, Metzke H, Thiele H, Vogel G, Kuhnert W, Ebener U, Wulff K

机构信息

Institut für Medizinische Genetik, Bereiches Medizin, Ernst-Moritz-Arndt-Universität Greifswald.

出版信息

Z Gesamte Inn Med. 1988 Aug 15;43(16):441-4.

PMID:2903594

Abstract

In 7 families at risk for hemophilia A 42 individuals were evaluated by the Taq I polymorphism of the extragenic probe St 14.1 and the Bcl I as well the Hind III polymorphism of the intragenic probe F8e16-19. 15 out of 20 females of the core families were identified as carriers, under them all of the obligate heterozygotes. 5 individuals were excluded as carriers. The heterozygosity for each of the RFLPs was found to be between 30% and 79%. Combining the single data in 96% heterozygosity was found under the individuals tested. A linkage disequilibrium was found between the Bcl I and Hind III polymorphismus of the probe F8e16-19. A family at risk for hemophilia B including 5 individuals was studied using the Taq I and Xmn I polymorphisms of the probe P1. In one of two females the carrier state could be excluded in the other one confirmed.

摘要

在7个有甲型血友病风险的家族中，通过基因外探针St 14.1的Taq I多态性以及基因内探针F8e16 - 19的Bcl I和Hind III多态性对42名个体进行了评估。核心家族的20名女性中有15名被鉴定为携带者，其中包括所有必然的杂合子。5名个体被排除为携带者。发现每个限制性片段长度多态性（RFLP）的杂合度在30%至79%之间。将单个数据合并后，在测试的个体中发现杂合度为96%。在探针F8e16 - 19的Bcl I和Hind III多态性之间发现了连锁不平衡。使用探针P1的Taq I和Xmn I多态性对一个有乙型血友病风险的家族（包括5名个体）进行了研究。在两名女性中的一名中可以排除携带者状态，在另一名中得到了确认。