Bentley D R, Campbell R D, Cross S J
Immunogenetics. 1985;22(4):377-90. doi: 10.1007/BF00430921.
The extent of the C2 locus in the HLA class III region has been determined by Southern blotting techniques and by DNA sequence analysis. The gene is 18 kb in length and therefore provides a marked contrast to the adjacent factor B gene of 6 kb. A novel restriction fragment length polymorphism (RFLP) has been identified using the endonuclease Sst I and a genomic probe derived from the 5' region of the C2 gene. Four variants have been detected in a sample of unrelated individuals with haplotypes carrying the C2C allele. Further analysis using C2 and factor B cDNA probes has determined the relationship between this and the other RFLPs previously identified in this region of the genome. Together, the three polymorphisms identified so far make the subdivision of previously indistinguishable haplotypes possible. They therefore constitute a series of markers which increase the resolution of genetic variation in the C2 locus and they may be important in studies of diseases associated with this region of the major histocompatibility complex.
通过Southern印迹技术和DNA序列分析确定了HLA III类区域中C2基因座的范围。该基因长度为18kb，因此与相邻的6kb的B因子基因形成了显著对比。使用核酸内切酶Sst I和源自C2基因5'区域的基因组探针鉴定出一种新的限制性片段长度多态性（RFLP）。在携带C2C等位基因单倍型的无关个体样本中检测到四种变体。使用C2和B因子cDNA探针的进一步分析确定了这与先前在该基因组区域中鉴定的其他RFLP之间的关系。迄今为止鉴定出的三种多态性共同使得对以前无法区分的单倍型进行细分成为可能。因此，它们构成了一系列标记，提高了C2基因座遗传变异的分辨率，并且它们在与主要组织相容性复合体该区域相关的疾病研究中可能很重要。
