Brautbar C, Yehuda O, Eisenberg S, Cohen N, Amar A, Sharon R, Fried K, Aghasi M, Cohen T
Tissue Antigens. 1983 Mar;21(3):233-7.
A large family with three children affected with the autosomal recessive disease of Cerebrotendinous Xanthomatosis (CTX) was studied for class I (HLA-A,B,C) and class II antigens (HLA-DR,D,SB), properdin factor B and glyoxalase. The extensive typing revealed an informative cross-over between HLA-B and Bf, indicating that Bf is located centromeric to the HLA-B locus and segregated in this family with HLA-D/DR. The parents in this family were first cousins and their parents were also first cousins. Three of their four haplotypes share B14, BfS, DR1, Dx and SB4 and may be identical by descent. The three affected children carried among them all four parental haplotypes, indicating that close linkage of the CTX locus to HLA is unlikely.
对一个患有常染色体隐性脑腱性黄瘤病（CTX）的大家庭进行了研究，该家庭中有三个孩子患病。研究内容包括I类（HLA - A、B、C）和II类抗原（HLA - DR、D、SB）、备解素因子B和乙二醛酶。广泛的分型显示HLA - B和Bf之间存在信息性交叉，表明Bf位于HLA - B基因座的着丝粒侧，并在该家族中与HLA - D/DR一起分离。这个家庭的父母是表亲，他们的父母也是表亲。他们的四个单倍型中有三个共享B14、BfS、DR1、Dx和SB4，可能是同源的。三个患病孩子携带了所有四种亲本单倍型，这表明CTX基因座与HLA紧密连锁的可能性不大。
