De Bruyere M, Kulakowski S, Malchaire J, Delire M, Sokal G
Tissue Antigens. 1977 Nov;10(5):399-402. doi: 10.1111/j.1399-0039.1977.tb00776.x.
The search for HLA association in spina bifida is particularly interesting since this condition can be associated with the effects of the T locus in mice. Gene and haplotype frequencies in 32 unrelated patients suffering from spina bifida were studied. Gene frequency of HLA-B5 and haplotype frequency of A2, B5 were increased without reaching signification levels. Fourteen families were examined clinically and radiologically. A high frequency of spina bifida occulta and other vertebral abnormalities was found without evidence of linkage with HLA haplotypes.
对脊柱裂患者进行HLA关联研究格外有趣，因为这种病症可能与小鼠T位点的效应有关。研究了32例非亲缘关系的脊柱裂患者的基因和单倍型频率。HLA - B5的基因频率以及A2、B5的单倍型频率有所增加，但未达到显著水平。对14个家庭进行了临床和放射学检查。发现隐性脊柱裂和其他脊椎异常的发生率很高，但没有证据表明与HLA单倍型存在连锁关系。
