Garlepp M J, Wilton A N, Dawkins R L, White P C
Immunogenetics. 1986;23(2):100-5. doi: 10.1007/BF00377968.
Human cDNA probes for 21-hydroxylase (21-OH) and for complement component C4 are used on restriction digests of the members of several families with interesting supratypes. The presence of two Taq I fragments of 3.7 kb and 3.2 kb in size with a 21-OH probe is confirmed in most individuals who show no evidence of C4 deletions or 21-OH deficiency. Most individuals also show a doublet of weakly hybridizing bands at approximately 2.5 kb, the smaller of which is part of the 21 A gene. The arrangement of the 21-OH genes on disease-associated supratypes was examined, and it is shown that copies of the same supratype from unrelated individuals are usually identical. Evidence is provided for deletions of 21A on the B8, C4AQ0, C4B1, BfS, DR3 and B18, C4A3, C4BQ0, BfF1, DR3 supratypes and a duplication of 21A on the B14, C4A2, C4B1/B2, BfS supratype. Gene rearrangements may be relevant to diseases such as juvenile onset diabetes mellitus.
针对21 - 羟化酶（21-OH）和补体成分C4的人cDNA探针被用于对几个具有有趣超型的家族成员的限制性酶切消化产物进行检测。在大多数未显示C4缺失或21-OH缺乏证据的个体中，证实存在大小为3.7 kb和3.2 kb的两个Taq I片段，该片段与21-OH探针杂交。大多数个体还在约2.5 kb处显示出一对弱杂交带，其中较小的带是21 A基因的一部分。对与疾病相关的超型上21-OH基因的排列进行了检查，结果表明来自无关个体的相同超型的拷贝通常是相同的。有证据表明在B8、C4AQ0、C4B1、BfS、DR3超型以及B18、C4A3、C4BQ0、BfF1、DR3超型上存在21A缺失，而在B14、C4A2、C4B1/B2、BfS超型上存在21A重复。基因重排可能与诸如青少年型糖尿病等疾病有关。
