人类中C2缺乏基因与主要组织相容性复合体（MHC）的连锁关系。另一病例的家系研究。

Linkage of gene for C2 deficiency and the major histocompatibility complex MHC in man. Family study of a further case.

作者信息

Day N K, Rubinstein P, Case D, Hansen J A, Good R A, Walker M E, Tulchin N, Dupont B, Jersild C

出版信息

Vox Sang. 1976;31(2):96-102. doi: 10.1111/j.1423-0410.1976.tb02194.x.

DOI:10.1111/j.1423-0410.1976.tb02194.x

Abstract

Close linkage between HL-A and C2 deficiency was first reported by FU and co-workers in 1974. We present here a pedigree of a 31-year-old C2-deficient individual with clinical manifestations of Hodgkins disease. The following markers were tested: C2 levels, factor B polymorphism, blood groups, and enzyme typing. In addition to close linkage between HL-A and C2 deficiency, both parents were heterozygous for Bf (HL-A linked, electrophoretic variation of B). The two HL-A haplotypes closely linked to C2 deficiency are different: 2, W18 and W24, W18. They share, however, the SD2 antigen W18 and the LD type 7a.

摘要

1974年，傅及其同事首次报道了HL - A与C2缺乏症之间的紧密连锁关系。我们在此展示一个31岁C2缺乏个体的家系，该个体有霍奇金病的临床表现。检测了以下标志物：C2水平、B因子多态性、血型和酶分型。除了HL - A与C2缺乏症之间的紧密连锁外，双亲均为Bf杂合子（与HL - A连锁，B的电泳变异）。与C2缺乏症紧密连锁的两个HL - A单倍型不同：2、W18和W24、W18。然而，它们共享SD2抗原W18和LD型7a。