Souroujon M C, Rubinstein D B, Schwartz R S, Barrett K J
Department of Medicine, New England Medical Center, Boston, MA 02111.
J Immunol. 1989 Jul 15;143(2):706-11.
Polymorphisms of the Ig H chain V region (VH) genes were examined with probes from the coding and flanking regions of a gene from the largest VH gene family, VHIII. The 5'-flanking probe gave the simplest pattern and revealed the largest number of polymorphic fragments. Analysis of unrelated individuals and of families identified five polymorphic loci. Two alleles were detected for each of two of the loci, whereas a polymorphic band was scored as present or absent for the other three loci. The polymorphic fragments segregated in the expected Mendelian fashion and parental haplotypes could be assigned in all cases. Comparison of the patterns obtained with the flanking and coding region probes suggests that the human VHIII gene family is highly polymorphic and may contain several hundred V genes. This method, as well as the polymorphism detected, can be used to investigate the organization and germ-line variation of H chain V genes and their inheritance in normal individuals and in individuals with immunologic disorders.
利用来自最大的VH基因家族VHIII中一个基因的编码区和侧翼区的探针，对Ig重链V区（VH）基因的多态性进行了检测。5'-侧翼探针给出了最简单的图谱，并揭示了数量最多的多态性片段。对无关个体和家系的分析确定了五个多态性位点。其中两个位点各检测到两个等位基因，而另外三个位点的一个多态性条带则根据有无进行计分。多态性片段以预期的孟德尔方式分离，并且在所有情况下都可以确定亲本单倍型。用侧翼区和编码区探针获得的图谱比较表明，人类VHIII基因家族高度多态，可能包含数百个V基因。这种方法以及检测到的多态性可用于研究重链V基因的组织和种系变异及其在正常个体和免疫紊乱个体中的遗传情况。
