Uring-Lambert B, Vegnaduzzi N, Carroll M C, Tongio M M, Goetz J, Hauptmann G
FEBS Lett. 1987 Jun 8;217(1):65-8. doi: 10.1016/0014-5793(87)81244-9.
The highly polymorphic fourth component of human complement (C4) is usually encoded by two genes. C4A and C4B, adjacent to the 21-hydroxylase (21-OH) genes, 21-OHA and 21-OHB, and is also remarkable in the high frequency of the 'null' alleles, C4A Q0 and C4B Q0. The molecular basis for the C4A Q0 allele was studied in 26 families through restriction fragment length polymorphism (RFLP) analysis with C4 and 21-OH cDNA probes after digestion of the DNA with the endonuclease HindIII. The individuals expressing the extended haplotype HLA-A1 (of A2) Cw7 B8 C2C BfS C4AQ0B1 DR3 have a large deletion taking off the C4A and 21-OHA genes.
人类补体的高度多态性第四成分（C4）通常由两个基因编码。C4A和C4B，与21-羟化酶（21-OH）基因21-OHA和21-OHB相邻，并且“无效”等位基因C4A Q0和C4B Q0的频率也很高。通过用核酸内切酶HindIII消化DNA后，用C4和21-OH cDNA探针进行限制性片段长度多态性（RFLP）分析，在26个家系中研究了C4A Q0等位基因的分子基础。表达扩展单倍型HLA-A1（A2型）Cw7 B8 C2C BfS C4AQ0B1 DR3的个体存在一个大的缺失，该缺失去除了C4A和21-OHA基因。
