Teisberg P, Jonassen R, Mevåg B, Gedde-Dahl T, Olaisen B
Medical Department, Rikshospitalet, Oslo, Norway.
Ann Hum Genet. 1988 May;52(2):77-84. doi: 10.1111/j.1469-1809.1988.tb01082.x.
Restriction fragment length polymorphisms of the C4 region of human chromosome 6 have been studied in family material where the haplotypes are defined with regard to other genetic markers in this region. Employing one near full-length C4 probe and the combination of BglII and XbaI enzymes, five different C4 genes were characterized. Studies of the segregation of DNA patterns in families made possible the reliable determination of DNA C4 haplotype pattern including gene number. In the total material of 76 haplotypes, 13 different types with regard to number and/or DNA type of C4 gene(s) were encountered. Twelve of the haplotypes had one C4 gene only, 58 had two genes, while 6 had three C4 genes. This fits fairly well with the hypothesis that the one- and three-gene haplotypes have originated through unequal crossing-over between chromosomes carrying duplicated C4 genes.
在家族材料中研究了人类6号染色体C4区域的限制性片段长度多态性，其中单倍型是根据该区域的其他遗传标记来定义的。使用一种近乎全长的C4探针以及BglII和XbaI酶的组合，鉴定出了五个不同的C4基因。对家族中DNA模式的分离研究使得可靠地确定包括基因数量在内的DNA C4单倍型模式成为可能。在总共76个单倍型的材料中，遇到了13种关于C4基因数量和/或DNA类型的不同类型。其中12个单倍型仅含有一个C4基因，58个含有两个基因，而6个含有三个C4基因。这与单基因和三基因单倍型是通过携带重复C4基因的染色体之间的不等交换产生的假设相当吻合。
