Imbalances of gamma globulin subgroups and gene defects in patients with primary hypogammaglobulinemia.
Imbalances of gamma globulin subgroups and gene defects in patients with primary hypogammaglobulinemia.
复制标题
原发性低丙种球蛋白血症患者丙种球蛋白亚群失衡和基因缺陷。
DOI：
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发表时间：
1970
影响因子：
15.9
通讯作者：
H. Kunkel
中科院分区：
文献类型：
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作者：
W. J. Yount;M. Seligmann;R. Hong;R. Good;H. Kunkel
对59例不同类型免疫缺陷患者的免疫球蛋白类别、γ G亚群和GM遗传标记进行分析，以评估与γ球蛋白合成有关的几个顺反子的功能。13例患者（包括两对同胞）存在γ G亚群失衡。所有这些患者都患有非性连锁疾病。13例中有11例以γ G3亚群为主。在大多数γ G3优势的情况下，选择性保留的是γ G3的Gm（B）型;受等位基因控制的Gm（g）型明显受到抑制，但在可以研究的情况下并非不存在。其他的不平衡，无论是伴随着gammaG 3优势或独立，包括gammaG 2亚组的优势和选择性缺乏单gammaG subgroup.One家庭遇到了可能的结构基因异常的常染色体Gm基因座。父母双方都有不同的异常基因复合体检测缺乏特定的Gm标记和先证者收到两种类型的父母。类似的基因复合体以前通过人群筛查在罕见的情况下观察到，但仅在杂合状态下观察到，并且与临床明显的低丙种球蛋白血症无关。在其他几个亚组不平衡的患者家族中，有两个家族可以排除结构基因缺陷。对亚组失衡患者的22名一级亲属进行的研究表明，检测到的最常见异常是γ A，其中3名缺失，另外2名明显降低;其他异常包括特定遗传类型的γ G球蛋白水平降低。它的结论是，γ G亚组失衡经常发现在非性连锁免疫球蛋白缺乏症，在某些情况下，可能与家庭异常，这表明无论是调节或结构基因缺陷。
Analysis of immunoglobulin classes, gammaG subgroups, and Gm genetic markers from 59 patients with various types of immune deficiencies was undertaken to assess the function of the several cistrons concerned with synthesis of gamma globulins. 13 patients including two sibling pairs were found to have gammaG subgroup imbalances. All of these patients had non sex-linked disease. 11 of the 13 had preponderance of the gammaG3 subgroup. In most instances of gammaG3 preponderance it was the Gm(b) type of gammaG3 that was selectively retained; the Gm(g) type, controlled by the allelic gene was markedly depressed but not absent in the cases where it could be studied. Other imbalances, either seen concomitantly with gammaG3 preponderance or independently, included predominance of the gammaG2 subgroup and selective absence of single gammaG subgroups.One family was encountered with probable structural gene abnormalities in the autosomal Gm loci. Both parents had different abnormal gene complexes detectable by absence of specific Gm markers and the propositus received both types from the parents. Similar gene complexes have been seen previously in rare instances through population screening but only in the heterozygous state and were not associated with clinically evident hypogammaglobulinemia. Of several other families of patients with subgroup imbalance, two were informative in that structural gene defects could be excluded. Studies on 22 first degree relatives of patients with subgroup imbalances indicated that the most common abnormality detected was in gammaA which was absent in 3 and markedly decreased in 2 others; other abnormalities included decreased levels of specific genetic types of gammaG globulin. It is concluded that gammaG subgroup imbalances are frequently found in non sex-linked immunoglobulin deficiency disorders and in some instances may be associated with family abnormalities suggesting either regulator or structural gene defects.