Nevsímalová S, Prazák J, Herzog P, Seemanová E
Neurological Department, Charles University Medical Faculty, Prague, Czechoslovakia.
Schweiz Arch Neurol Psychiatr (1985). 1991;142(1):19-29.
The Duffy system, Fya, Fyb, and HLA antigens were studied in 86 members, 39 affected, 47 healthy subjects, of 17 families with HMSN types I, II and III. The incidence of autosomal dominant as well as recessive, or sporadic forms was registered. In the autosomal dominant form of HMSN type I a close linkage was found between the genes coding the disease under study and the determinants Fya and Fyb. Recombination was found in only 9.1% of the cases. A study of HLA antigens revealed a major decrease in antigen B27 in the patients under scrutiny. An identical haplotype of most of the parents was a conspicuous feature in families with the autosomal dominant form of HMSN type I.
对17个患有I型、II型和III型遗传性运动感觉神经病（HMSN）家庭的86名成员（39名患者，47名健康受试者）进行了达菲系统、Fya、Fyb和人类白细胞抗原（HLA）抗原研究。记录了常染色体显性、隐性或散发形式的发病率。在I型HMSN的常染色体显性形式中，发现所研究疾病的编码基因与Fya和Fyb决定簇之间存在紧密连锁。仅在9.1%的病例中发现重组。对HLA抗原的研究显示，受检查患者的抗原B27显著减少。在I型HMSN常染色体显性形式的家庭中，大多数父母具有相同的单倍型是一个显著特征。
